Gene sentence example

gene
  • That is quite a gene pool you two have.
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  • The gene mutated accidently, but once noticed, breeders bred for it.
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  • The cells were analyzed to identify each gene expressed in the cell and the levels at which each gene is expressed.
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  • Isolation, characterization and expression of a gene coding for a 2S albumin from Bertholletia excelsa (Brazil nut ).
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  • Research is ongoing to find the ideal vector for the tumor antigen encoding gene.
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  • How differential gene expression leads to organ formation and cellular differentiation.
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  • Researchers believe that the disease began over 250 years ago by a wealthy Venetian doctor who carried the original mutated gene.
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  • Gene mutations can produce faulty proteins, which in turn produce abnormal cells that no longer divide and reproduce in an orderly manner.
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  • We showed that one or more proteins encoded by gene 1 of infectious (IB) virus have a dominant impact on pathogenicity.
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  • The next stage is for the research team to find the mechanism responsible for this action of gene imprinting.
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  • Specific research is being done on gene therapy.
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  • For this reason, doctors believe that genetics play a role in the sleep disorder, though no gene has yet been specifically linked to this disorder.
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  • The chance of a person with NF passing on the NF gene to a child is 50 percent.
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  • The mutation was transmitted to later generations because people who carried a single copy of the mutated gene had a modified (but not abnormal) inflammatory response that may have protected them against some infectious agent at that time.
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  • E3 has therefore been called the " stealth " gene, allowing adenoviruses to evade the host immune response.
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  • More recently, studies on the role of immediate early gene expression in excitatory amino acid-induced neurotoxicity have been initiated.
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  • Antisense transcript believed to be an antisense transcript believed to be an antisense product used in the regulation of the gene to which it belongs.
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  • But it is still possible that beneficial arthropods might be indirectly influenced by the presence of the Bt gene.
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  • Studies of the domain architecture imply that the gene normally functions as a negative regulator in auxin signaling by damping the positive auxin signals.
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  • Modified bacterial viruses, called bacteriophages, are used to deliver the gene encoding this protein to specific harmful bacteria.
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  • So we should be bringing forward plans for a National Gene Bank so that breeders can re-establish bloodlines of specially bred livestock.
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  • The only way to enlarge the gene pool is to bring in new bloodlines from the wild.
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  • A brazil nut allergen was identified in soya bean genetically engineered with a brazil nut gene (Nordlee et al, 1996 ).
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  • The same mutation of the tabby gene is now believed to produce the king cheetah 's coat.
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  • A chemo-induced gene mutation can happen when the original chemo received does not work.
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  • It is clear therefore that there is an intimate relationship between the metabolic processes in the developing chloroplast and nuclear gene expression.
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  • The existing concept - that open chromatin is an absolute requirement for gene activity - is not supported by this study.
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  • We recommend that gene sequences be numbered so that the first base of the first codon is numbered zero.
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  • The glycoprotein gene has a translation stop codon in the middle of it, preventing the synthesis of the full length protein.
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  • By the Public Health Genetics Unit Children with severe combined immunodeficiency have been treated using gene therapy.
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  • Only the identification of the gene implicated will determine which of these possibilities is true.
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  • In the absence of Mecp2 there was complete loss of normal maternal imprinting of the Dlx5 gene in the mouse brain.
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  • Gene therapy shows promise for curing otherwise incurable diseases.
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  • The risk of a parent with the gene passing the mutation on to a child is 50% (autosomal dominant inheritance ).
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  • A change in the DNA causes a special gene called an oncogene to be switched on.
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  • However, when two people who each carry a changed or mutated copy of the same gene for a recessive condition have children, there is a chance with each pregnancy for the child to inherit the two changed or mutated copies from each parent.
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  • There has been no report of success in targeted gene insertion in any GM plant or animals.
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  • For example, the chapters on transposon insertion, microscopy, gene disruption and analysis of Streptomyces DNA are all new.
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  • A gene homologous to human interleukin 10 in cytomegalovirus was found to be powerfully immunosuppressive [4] .
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  • Variants of a gene encoding the protein interleukin 12B may associated with severity of disease in children who have asthma.
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  • We have also added HGNC reference ID numbers to each gene record, facilitating database interoperability.
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  • Gaining parameters to populate models of gene introgression rates.
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  • Most PEPc kinase genes contain a single conserved intron but solanaceous plants have one unusual PEPc kinase gene with a second intron.
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  • The detailed view at the bottom reveals that the FOXP2 gene contains a number of very small exons and one very large intron.
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  • T cell receptor gene rearrangement problems contribute to thymic involution by making the cells less resistant to apoptosis.
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  • And to Gene Norman, who had a blues jamboree, and to Johnny Otis.
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  • The gene family encoding protein kinases is the most commonly mutated in human cancer.
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  • The study product is an adenovirus derived vector which contains the gene for the enzyme thymidine kinase (TK ).
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  • Oxford BioMedica has core expertise in gene delivery, as well as in-house clinical, regulatory and manufacturing know-how.
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  • A study looking at severe and disfiguring mucocutaneous leishmaniasis has identified a single gene which predisposes to this particular type of disease.
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  • Modifying plants with a gene enhancing the proportion of guaiacyl-syringyl lignin therefore provides a lignin more readily degraded by chemicals or enzymes.
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  • Protocol amendment to the gene therapy trial in follicular lymphoma using a DNA vaccine.
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  • The Cry gene toxins target specific insect cell receptor proteins and create pores that lead to osmotic lysis of the insect gut cells.
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  • David is well known for his expertise in using gene targeted macrophages to deliver cytokines to inflamed sites to provide in vivo biosensors.
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  • The MBL2 gene on chromosome 10 is the blueprint for a protein called mannose binding protein that is similar in shape to C1q.
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  • As a result of genome mapping and gene display technologies, new molecular markers are being identified with increasing accuracy and rapidity.
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  • In contrast, the metallothionein gene in invertebrates, especially marine ones, has not been studied thoroughly.
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  • Samples were then run on an ABI 377 gene scan analysis gel with an internal molecular weight marker.
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  • Therefore mutation provides a mechanism for adding random genetic material into the chromosome by changing one or more of the gene values at random.
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  • The term meme first appeared in 1976, in Richard Dawkins's best-selling book The Selfish Gene.
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  • The term ' meme ' was coined by Richard Dawkins in his 1976 bestseller The Selfish Gene.
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  • Main current research is a BBSRC project on microarray analysis to study gene regulation of polyunsaturated fatty acid metabolism.
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  • The current obsession with gene manipulation may be entirely misplaced.
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  • Coming from England, I have a gene missing that allows identification of grand scale.
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  • The problem was traced to a defective gene which should have made a substance called monoamine oxidase.
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  • Protection of transgenic plants expressing the coat protein gene of watermelon mosaic virus II or zucchini yellow mosaic virus against six potyviruses.
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  • Specifically, in 2% of patients, the mutated TSC gene is not detected in either parent because of germline mosaicism.
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  • There were no published studies that had compared the sensitivity of the two assays specifically with regard to the detection of gene mutagens.
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  • By PCR screening we are able to identify mutants in the library for any given gene.
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  • More recently, I have been involved in the detailed determination of gene function through induced mutation of the genes encoding renin.
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  • Many members of Li-Fraumeni families have a germline mutation of the TP53 gene.
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  • Importantly, in rare families, a gene mutation has been shown to cause the abnormal build up of tau protein in the brain.
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  • A gene in mice, similar to a human gene, has been shown to be important in making myelin.
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  • In addition to the one myosin II gene, Dictyostelium expresses two myosin XI genes and at least six myosin I genes.
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  • System on a says gene Nelson are failing to.
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  • Horizontal gene transfer a key process of the fluid genome - makes Neo-Darwinism untenable in perhaps the most explicit fashion.
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  • The precise function of the gene is unknown, although it is thought to help nerve cells communicate with each other.
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  • Some of the ideas behind systematic hierarchical nomenclature for gene families are explained in the links from the other webpage.
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  • This also proved a valuable forum to raise the profile of approved gene nomenclature with all the organizations present.
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  • Identification of altered gene expression in polymyositis using Affymetrix high density oligonucleotide arrays.
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  • Investigation showed the retroviral vector used to load a gene into bone marrow cells had inadvertently carried its DNA into a known oncogene.
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  • Gene therapy Scientists are studying oncogenes and tumor suppressor genes.
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  • They also suggest that the HIV-1 envelope gene could interact with human oncogenes that have Chi sequences.
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  • Among other things, changes of gene dosage and/or oncogene activation are mentioned as factors possibly influencing the characteristics of this non-random pattern.
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  • Anyway, I heard heaps and heaps about gene ontology that went in one ear and out the other.
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  • Respiratory cell outgrowths from nasal polyps can be considered a suitable model to study gene transfer protocols in vitro.
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  • The study shows that gene therapy could potentially be used instead of an artificial pacemaker.
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  • Lambs carrying a double muscling gene which American meat packers say has an effect worth about $ 15 a carcass.
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  • Several structural and gene expression changes have been shown in many tissues, including pancreas, liver, kidney, muscle and adipose tissue.
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  • Virus resistant papaya derived from tissues bombarded with the coat protein gene of papaya ringspot virus.
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  • During this discussion we introduce a number of recent developments of gene tree parsimony methods overlooked by Simmons and Freudenstein.
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  • However, decreased penetrance of a particular gene defect cannot be excluded.
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  • There is a 50 per cent chance of parents passing on the gene, although with reduced penetrance.
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  • All these conditions are ' high penetrance ' - meaning that people who have the gene are extremely likely to develop the condition.
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  • If we insert a gene for making oil of peppermint, we'll end up with peppermint flavored potatoes.
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  • Although this seems obvious, many peptidases are still named in just this way, most notably by use of gene symbols as names.
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  • Links to Ensembl The Summaries for human and mouse peptidases and inhibitors now contain links to gene reports in the Ensembl database.
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  • A glyphosate-resistant plant cell of Claim 22 in which the chloroplast transit peptide is from a plant EPSPS gene... .
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  • Extracting species trees from complex gene trees: reconciled trees and vertebrate phylogeny.
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  • The third step is to join the new gene into the bacterial plasmid.
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  • Curiously, a gene, DNA polymerase V, activates in times of stress.
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  • In addition an extensive search was made for other studies relating to ace gene polymorphism and renal damage.
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  • We genotyped the IVS1-397 and TA n microsatellite polymorphisms of the ESR1 gene in 325 cases and 327 controls samples of Hong Kong Chinese.
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  • I'll be glad to see the gene pool extending.
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  • Pilot studies to consider the relative potency of the different types of particles on gene expression in the heart in vivo were just starting.
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  • Production of transgenic soybean lines expressing the bean pod mottle virus coat protein precursor gene.
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  • This is typically the name of the overlapping gene preceded by the laboratory prefix.
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  • Jeff (Gene Bervoets ), a fellow student, encourages Harry to attend the college prom.
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  • Both plasmids contain the nptII gene under control of a bacterial promoter.
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  • A UK trial looking at gene therapy for early stage prostate cancer closed in October 2004.
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  • The gene that underlies this disorder encodes a muscle protein called dystrophin.
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  • Specific gene activity can be monitored using markers related to green fluorescent protein (GFP ).
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  • The hybridization data are consistent with partial sequence analysis of the AC1 gene and the capsid protein gene.
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  • These cytokines induce gene rearrangements culminating in class switching.
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  • Several gene families undergo rearrangements in immune cells in order to generate a vast diversity of antibodies.
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  • Southern blot analyzes revealed no genetic rearrangements in the BIN1 gene in any of the cell lines studied.
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  • Immunoglobulin JH gene rearrangement was detected in these lymphoma cells.
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  • The researchers studied the gene for the androgen receptor, which is located on the X-chromosome.
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  • Using meiotic recombination in yeast to map gene locations.
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  • Recombination of a functional red clover necrotic mosaic virus by recombination rescue of the cell-to-cell movement gene expressed in a transgenic plant.
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  • Toll-like receptor 2 and 4 (TLR2 and TLR4) agonists differentially regulate secretory interleukin-1 receptor antagonist gene expression in macrophages.
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  • Underlying molecular defect CF is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
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  • We are now often dealing with very unusual gene combinations not seen in the wild - for herbicide resistance for instance.
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  • Transgenic poultry have been created using retroviruses carrying copies of the DNA coding for a new gene.
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  • The transgenic construct included a barnase ribonuclease gene controlled by a tapetum promoter.
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  • A gene fragment, coding for the coat protein of the virus, is introduced into cells of healthy grapevine rootstock.
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  • The new therapy uses a known anti-cancer gene called p53, which makes a protein that triggers the self-destruction of cancer cells.
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  • News Stories Gene variants claimed to be involved in asthma susceptibility Genetic contribution to asthma severity?
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  • Perhaps continually pairing spangles to related Normals bred from Spangles somehow weakens the Spangle gene(s) that produce the visual Spangle.
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  • In addition, we are using in vitro gene shuffling to study the domains determining specificity of Pto.
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  • Tracking down the gene The researchers aim to find the faulty gene, or genes, that cause pyloric stenosis.
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  • The 4.1 kDa N-terminal transit peptide appears to target the nuclear encoded gene product through the chloroplast envelope into the chloroplast stroma.
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  • Banjo dog twisted, turned with Meridian Green pushing Gene Parsons by supplying fast strummed rhythm.
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  • The wild Bt sunflowers had 50 percent more seeds than control hybrids without the gene.
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  • It is proposed that each core gene might represent a unique superfamily.
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  • Properties of antibodies 1. Antibody structure; variable and constant domains; isotypes; immunoglobulin gene superfamily.
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  • Other yet undiscovered genes outside the prion protein gene locus might also confer susceptibility.
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  • Waardenburg syndrome is called a dominant trait because only one copy of the gene is necessary to inherit the syndrome.
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  • These gene therapy trials will all be the first of their kind in the UK.
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  • A number of regions in the promoter have been identified that modulate gene transcription.
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  • However, we have now extended these studies to use retroviral gene transfer methods to stably transduce macrophage precursors with these DNA constructs.
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  • Rob described a novel radiotherapeutic approach utilizing gene transfection strategies to treat prostate cancer with a bystander effect.
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  • Adenovirus could be used to improve the efficiency of gene therapy that has been achieved using DNA transfection.
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  • I first pointed out the dangers of horizontal gene transfer to MAFF in a series of correspondence in 1996.
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  • The gene remained active by stimulating expression from a plasmid containing the chloramphenicol acetyl transferase gene under the control of the tat dependent promoter.
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  • Expression of a novel, rapidly evolving gene family in the bloodstream form of a pathogenic African trypanosome.
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  • These results strongly suggest that Rb gene alteration is pertinent to the tumorigenesis of most osteosarcoma cases and some other bone and soft-tissue tumors.
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  • The second is an endogenous cellular gene, previously unsuspected of playing a role in cancer.
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  • Overall, the contents are reasonably up-to-date with some new references, although integrons and gene cassettes were not to be found.
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  • One experimental approach has used a virus called vaccinia into which the gene for PSA had been cloned.
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  • This requires a large-scale genotyping and bioinformatics program, in crop and model systems, that relates allelic variants to gene function.
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  • Why should the presence of the shorter gene variant make such a difference?
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  • A gene located near such an ill-defined boundary would be susceptible to position effect variegation.
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  • A particular gene that produces a protein called vasopressin in their brains contributes to these behaviors.
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  • He pointed out that virus infection induced immediate and subsequent changes in host gene expression and has an impact on virus replication and movement.
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  • Information is provided on the center's research programs, which cover vineyard management, economic and sustainable viticulture and gene technology.
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  • Twelve presbyteries were erected in London; Shropshire and Lancashire were organized; and Bolton was so vigorous in the cause as to gain the name of the Gene Ta of Lancashire.
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  • In January 1886 Ras Alula raided the village of Wa, to the west of Zula, but towards the end of the year (23rd November) \Va was occupied by the irregular troops of General Gene, who had superseded Colonel Saiettaat Massawa.
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  • General Gene nevertheless reinforced Via and pushed forward a detachment to Saati.
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  • Fearing a new attack, General Gene withdrew his forces from Saati, Wa and Arafali; but the losses of the Abyssinians at Saati and Dogali had been so heavy as to dissuade Alula from further hostilities.
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  • Matters came to a head in January 1887, when the Abyssinians, in consequence of a refusal from General Gene to withdraw his troops, surrounded and attacked a detachment of soo Italian troops at Dogali, killing more than 400 of them.
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  • By looking at how the genome varies between people with a genetic condition and people without it, we can identify the troublemaking gene.
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  • Bejo Zaden BV Male sterile radicchio rosso The barnase gene from Bacillus amyloliquefaciens.
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  • Retired rear admiral Gene Carroll was pleased but not surprised by the bombshell from the Pentagon.
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  • Sons, however will have only the recessive gene from the mother.
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  • We describe the use of reconciled trees to reconstruct the history of a gene tree with respect to a species tree.
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  • The rep gene is involved in this process, which is poorly understood.
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  • This research in the area of molecular biology, involved reporter assay methods to quantify gene expression and immunological techniques to measure protein concentrations.
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  • Genes of interest were introduced into mouse embryos alongside a " reporter gene " that produces a fluorescent substance wherever the gene is active.
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  • He further described how loss of hMLH1 expression is associated with methylation of the gene promoter repressing hMLH1 gene transcription.
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  • A child ends up having two copies of each gene, including the retinoblastoma gene.
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  • The product is based on a highly engineered retrovirus gene delivery system expressing a specific human cytochrome P450 gene.
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  • Silencing of gene expression: implications for design of retrovirus vectors.
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  • They have similar features to retroviruses in the ease of manipulation, predictable integration and reliable gene expression and regulation.
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  • Orson J. Gene stacking in herbicide tolerant oilseed rape: lessons from the North American experience.
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  • Baculovirus vectors have been shown to transduce various cell types in vitro and in vivo with significant efficiency leading to stable gene expression.
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  • The crucial question is whether transgenic DNA is more likely to spread by horizontal gene transfer than natural DNA.
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  • They also appeared on a Gene Vincent tribute album.
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  • The code in DNA is a triplet code; three bases code for each amino acid (three bases make up each gene).
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  • Production of transgenic citrus plants expressing the citrus tristeza virus coat protein gene.
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  • Mice missing the tyrosinase gene have been found to have developmental eye defects similar to those seen in human patients.
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  • Regulation of plaque size and host range by a vaccinia virus gene related to complement system proteins.
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  • Previous studies have shown the vasopressin receptor gene regulates social behaviors in many species.
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  • Recently experiments have been performed to look at the levels of virulence gene expression in mammalian cells.
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  • Information is provided on the center 's research programs, which cover vineyard management, economic and sustainable viticulture and gene technology.
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  • Karen Parker, University of Nottingham, to work with Matt Dickinson on regulation of gene expression through DNA methylation during wheat rust development.
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  • If you are having trouble finding the right name, options like Baby Name Gene allow you to search computer generation name combinations based on your last name.
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  • Cats have genes, just like we do and there is a gene for color.
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  • The color gene is also tied into the sex chromosome.
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  • Allerca claims to have used a gene silencing technique to modify British Shorthairs into the non allergenic dream.
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  • The distinguishing look of the Siamese cat's coloring comes from a recessive pointing gene.
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  • The darker points are produced by a gene that is heat sensitive, only showing on the cooler body parts.
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  • Using the scientific technology of gene sequencing and careful breeding programs, Lifestyle Pets successfully developed cats with naturally occurring genetic divergences.
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  • Many owners of flame points believe it is the red gene that creates the unique characters that come from this color pattern.
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  • These colors are particularly difficult to breed for because the gene that produces them both is a recessive gene.
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  • In order for these colors to show up, the offspring must inherit the recessive gene from both parents.
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  • These eye colors are normally paired with yellow or olive based skin tones, although many fair skinned girls inherit the green flecked gene.
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  • For example, if you have a recessive gene for alopecia, stress can be the aggravating factor that kicks the disease into gear.
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  • Although no one has been able to identify a "gene" for anorexia, the disorder does tend to run in families.
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  • Eating disorders do appear to run in families, although no concrete "bulimia gene" has been found.
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  • Alcoholism is considered a disease because scientists have discovered that some individuals are more susceptible to alcoholism than others are because they carry a specific gene for the disease.
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  • Gene Autry, the famous singing cowboy, has the most stars of any celebrity, representing each of the five categories.
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  • Four stars have been stolen from the Walk of Fame: Jimmy Stewart, Kirk Douglas, Gene Autry, and Gregory Peck.
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  • In 1991, she made a Diet Coke commercial where she "danced" with Gene Kelly.
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  • Gene Simmons - The legendary KISS front man actually has been in the business world for many years.
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  • Simmons is no stranger to reality television either -- he and his family are the stars of A&E's Gene Simmons: Family Jewels.
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  • That same "wild-child" gene seems to run in the family as it seems that Ali neither looks nor acts like she is 14.
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  • He's had a long and successful career in a variety of fields, but where is Gene Wilder now?
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  • Gene Wilder was born Jerome Silberman on June 11, 1933, in Milwaukee, Wisconsin.
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  • He officially changed his name to Gene Wilder, and worked in several off-Broadway theatre productions while furthering his education.Though his dramatic acting was praised, his true calling was comedy.
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  • In addition to his acting and screenwriting, Gene Wilder is well-known for his marriage to comedian and former Saturday Night Live cast member Gilda Radner.
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  • If you're wondering where is Gene Wilder now, he lives in Stamford, Connecticut with his wife.
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  • Hector, the original German Shepherd, is the source of the recessive white gene still evident today.
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  • German Shepherds have become a popular breed, and as with many breeds before them, indiscriminent breeding by those seeking a quick cash return has resulted in lesser quality animals contributing to the gene pool.
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  • It will also determine if the dog is a carrier of the gene.
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  • There is no treatment for this disease, and dogs carrying the gene are not allowed to be bred.
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  • Before purchasing a puppy, make sure that the gene test for this disease has been done.
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  • Concerns about inherent defects are often discussed as well as suggestions about which tests to run when determining if an animal is a gene carrier.
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  • The color yellow is produced when a recessive epistatic gene blocks the appearance of the black or chocolate genes.
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  • If you love the kind of rock music played by the band KISS, you'll be glad to know that Gene Simmons guitar picks are available.
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  • One of the most impressive things about KISS, besides their catchy rock melodies and unparalleled stage performances, has always been Gene Simmons' marketing and merchandising genius.
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  • Learn where you can find Gene Simmons' KISS guitar picks on the Internet.
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  • Whether you want to play your guitar with them or simply want to add to your Kiss collection, there are plenty of options out there for Gene Simmons guitar picks.
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  • Gene Simmons.com - You might as well start your search with the man himself.
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  • Gene's website sells a 12-pack of Kiss guitar picks that are black with the classic KISS logo.
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  • This link will take you to all the Gene Simmons and KISS guitar picks that are currently being sold on eBay.
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  • There are framed guitar picks, signed picks and picks with Gene Simmons' face on them.
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  • The variety of items available for sale on eBay that relate to Gene Simmons and KISS is staggering.
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  • Amazon.com - Amazon is another online retailer that carries Gene Simmons and Kiss related guitar picks.
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  • Gene Simmons Axe Guitar for Rock Band and Guitar Hero - If you play Rock Band or Guitar Hero and love Gene Simmons, you will no doubt love this Gene Simmons Axe Guitar.
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  • Gene Simmons and KISS might be getting up there in years, but they are still as relevant today as ever before.
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  • The reality show Gene Simmons Family Jewels is a hit on A&E, and the band keeps current by including their music in Rock Band and Guitar Hero.
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  • And where would KISS be without Gene Simmons?
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  • The group is really a studio project of Gene Hoglan on drums and Brandon Small on guitars, vocals, bass and keyboards, but they occasionally tour live in their real human form along with Mike Keneally and Bryan Beller.
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  • Some types of corn have been modified with a gene that kills caterpillars and other soft bodied pests.
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  • If one parent has the gene, then each of their children has a 50 percent chance of inheriting the gene and eventually getting the disease.
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  • Instead it embodies the music group Kiss and there's nothing cute in this game... not even Gene Simmons.
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  • If only I could kill Gene Simmons... in the game of course.
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  • Gene Pierce, Eastman Beers, Edward Dalrymple, and Howard Kimball founded Glenora Wine Cellars in 1977 on the site of an old sheep barn.
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  • Gene sequences can also be evaluated in a method (comparative genomic hybridization) that compares samples from a tumor and normal tissue after both have been exposed to the same radioactive material.
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  • Genetic testing uses molecular probes to identify gene mutations that have been linked to specific cancers.
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  • Both forms of neurofibromatosis are caused by a defective gene.
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  • Both of these disorders are inherited in a dominant fashion, which means that anyone who receives just one defective gene will have the disease.
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  • The other cases of NF occur due to a spontaneous mutation (a permanent change in the structure of a specific gene).
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  • Gene studies may be done to detect abnormalities on chromosomes 17 and 22.
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  • The subtypes are labeled by letters, so there is CMT1A, CMT1B, etc. Therefore, the gene with a mutation that causes CMT1A is different from the one that causes CMT1B.
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  • The most common type of CMT, called CMT1A, is caused by a mutation in a gene called peripheral myelin protein 22 (PMP22) located on chromosome 17.
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  • The job of this gene is to make a protein (PMP22) that makes up part of the myelin.
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  • In most people who have CMT, the mutation that causes the condition is a duplication (doubling) of the PMP22 gene.
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  • Instead of having two copies of the PMP22 gene (one on each chromosome) there are three copies.
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  • It is not known how this extra copy of the PMP22 gene causes the observed symptoms.
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  • A small percentage of people with CMT1A do not have a duplication of the PMP22 gene, but rather they have a point mutation in the gene.
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  • A point mutation is like a typo in the gene that causes it to work incorrectly.
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  • Therefore, there is only one copy of the PMP22 gene instead of two.
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  • Another type of CMT, called CMT1B, is caused by a mutation in a gene called myelin protein zero (MPZ), located on chromosome 1.
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  • The job of this gene is to make the layers of myelin stick together as they are wrapped around the axon.
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  • The mutations in this gene are point mutations because they involve a change (either deletion, substitution, or insertion) at one specific component of a gene.
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  • In CMTX, the CMT-causing gene is located on the X chromosome and is called connexin 32 (Cx32).
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  • The job of this gene is to code for a class of protein called connexins that form tunnels between the layers of myelin.
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  • In the early 2000s, the gene for CMT2E was found.
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  • The gene is called neurofilament-light (NF-L).
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  • Because it has just been discovered, not much is known about how mutations in this gene cause CMT.
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  • In a dominant condition, only one gene of a pair needs to have a mutation in order for a person to have symptoms of the condition.
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  • Since males only have one X chromosome, they only have one copy of the Cx32 gene.
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  • Thus, when a male has a mutation in his Cx32 gene, he will have CMT.
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  • However, females have two X chromosomes and, therefore, have two copies of the Cx32 gene.
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  • This is because their normal copy of the Cx32 gene does make normal myelin.
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  • Therefore, an affected male passes the Cx32 gene mutation on to all of his daughters, but to none of his sons.
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  • They have one normal copy of the gene and one copy with a mutation.
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  • In some genetic diseases, a person needs to have two copies of a defective gene in order to show symptoms of the disease; if only one of the two genes is defective, the person is considered a carrier.
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  • In autosomal recessive inheritance, the affected individual has inherited a defective gene from each parent.
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  • If a defective gene encoding for a disease is found on the X chromosome, then a male child cannot have a healthy copy of the gene (since he only has one X chromosome); therefore, he will develop the disorder.
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  • Female children are at less risk because they have to have two copies of the defective gene (one on each X chromosome) in order to develop the disease.
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  • As opposed to autosomal recessive inheritance, only one defective copy of a gene needs to be inherited in order for an individual to develop the disease.
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  • Both the mother and father have the gene that causes the condition but may not have symptoms of fructose intolerance themselves.
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  • Several gene mutations causing hereditary fructose intolerance have been identified.
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  • Genetic testing with DNA analysis may be available to identify one of the common gene mutations that lead to this disorder.
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  • Carriers of the gene for hereditary fructose intolerance can be identified through DNA analysis.
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  • Preliminary evidence suggests that parents of a child with this disorder, and other carriers of the mutant gene, may have an increased risk for gout.
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  • This form of EDS is caused by a change in the PLOD gene on chromosome 1, which encodes the enzyme lysyl hydroxylase.
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  • The manner in which EDS is inherited depends on the specific gene involved.
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  • Because chromosomes are inherited in pairs, each individual receives two copies of each chromosome and likewise two copies of each gene.
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  • In autosomal dominant EDS, only one copy of a specific gene must be changed for a person to have EDS.
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  • In autosomal recessive EDS, both copies of a specific gene must be changed for a person to have EDS.
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  • In X-linked EDS, a specific gene on the X chromosome must be changed.
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  • As with autosomal recessive, this implies that both copies of a specific gene must be changed for a person to be affected.
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  • However, because males only have one X-chromosome, they are affected if an X-linked recessive EDS gene is changed on their single X-chromosome.
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  • On the other hand, that same gene must be changed on both of the X-chromosomes in a female for her to be affected.
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  • Although there is much information regarding the changes in genes that cause EDS and their various inheritance patterns, the exact gene mutation for all types of EDS is not known.
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  • Sickle cell anemia is caused by an error in the gene that signals the body how to make hemoglobin.
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  • The defective gene tells the body to make the abnormal hemoglobin HbS instead of the normal HbA, and this results in deformed red blood cells.
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  • The error in the hemoglobin gene is due to a genetic mutation that occurred many thousands of years ago in people living in Africa, the Mediterranean basin, the Middle East, and India.
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  • They grew up, had their own children, and passed on the gene for HbS.
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  • The rate of mutation of the fibrillin gene, however, appears to be related to the age of the child's father; older fathers are more likely to have new mutations appear in chromosome 15.
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  • Marfan syndrome is caused by a single gene for fibrillin on chromosome 15, which is inherited in most cases from an affected parent.
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  • Mutations of the fibrillin gene (FBNI) are unique to each family affected by Marfan, which makes rapid genetic diagnosis impossible, given present technology.
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  • This term means that the mutated fibrillin gene can produce a variety of symptoms of very different degrees of severity, even in members of the same family.
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  • In Marfan's syndrome, the gene responsible for fibrillin has mutated, causing the body to produce a defective protein.
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  • An autosomal disorder is one that occurs because of an abnormal gene on a chromosome that is not a sex-linked chromosome.
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  • A dominant disorder means that it only takes one abnormal gene in a pair of genes to have the disorder.
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  • Because in autosomal dominant disorders one gene is abnormal, people with this disorder have about a 50 percent chance of passing the abnormal gene to their offspring.
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  • Decreased penetrance means that not all people who inherit the abnormal gene develop symptoms.
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  • There is some evidence that females who inherit the Tourette syndrome gene have a lower probability of exhibiting symptoms than males who inherit the gene.
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  • Autosomal dominant-A pattern of inheritance in which only one of the two copies of an autosomal gene must be abnormal for a genetic condition or disease to occur.
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  • An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes.
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  • Decreased penetrance-Individuals who inherit a changed disease gene but do not develop symptoms.
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  • Each gene is found on a precise location on a chromosome.
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  • Journey from Cognition to Brain to Gene: Perspectives from Williams Syndrome.
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  • Single gene defects such as phenylketonuria (PKU) and other inborn errors of metabolism may also cause mental retardation if they are not found and treated early.
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  • Genetic disease-A disease that is (partly or completely) the result of the abnormal function or expression of a gene; a disease caused by the inheritance and expression of a genetic mutation.
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  • Recessive disorder-Disorder that requires two copies of the predisposing gene one from each parent for the child to have the disease.
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  • The gene that, when defective, causes CF is called the CFTR gene, which stands for cystic fibrosis transmembrane conductance regulator.
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  • A simple defect in this gene leads to all the consequences of CF.
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  • There are over 500 known defects in the CFTR gene that can cause CF.
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  • However, 70 percent of all people with a defective CFTR gene have the same defect, known as delta-F508.
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  • The gene defects in CF are called point mutations, meaning that the gene is mutated only at one small spot along its length.
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  • In other words, the delta-F508 mutation is a loss of one "letter" out of thousands within the CFTR gene.
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  • Each person actually has two copies of each gene, including the CFTR gene, in each of their body cells.
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  • During sperm and egg production, however, these two copies separate, so that each sperm or egg contains only one copy of each gene.
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  • When sperm and egg unite, the newly created cell once again has two copies of each gene.
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  • The two gene copies may be the same or they may be slightly different.
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  • For the CFTR gene, for instance, a person may have two normal copies, or one normal and one mutated copy, or two mutated copies.
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  • A carrier will not have symptoms of CF but can pass on the mutated CFTR gene to his/her children.
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  • Approximately one in every 25 Americans of northern-European descent is a carrier of the mutated CF gene, while only one in 17,000 African Americans and one in 30,000 Asian Americans are carriers.
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  • It may seem puzzling that a mutated gene with such harmful consequences would remain so common; one might guess that the high mortality of CF would quickly lead to loss of the mutated gene from the population.
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  • It is believed that having one copy of the CF gene is enough to prevent the full effects of cholera infection, while not enough to cause the symptoms of CF.
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  • The discovery of the CFTR gene in 1989 allowed the development of an accurate genetic test for CF.
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  • Genes from a small blood or tissue sample are analyzed for specific mutations; presence of two copies of the mutated gene confirms the diagnosis of CF in all but a very few cases.
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  • However, since there are so many different possible mutations and since testing for all of them would be too expensive and time-consuming, a negative gene test cannot rule out the possibility of CF.
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  • Gene therapy is the most ambitious approach to curing CF.
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  • In this set of techniques, non-defective copies of the CFTR gene are delivered to affected cells, where they are taken up and used to create the CFTR protein.
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  • While elegant and simple in theory, gene therapy has met with a large number of difficulties in trials, including immune resistance, very short duration of the introduced gene, and inadequately widespread delivery.
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  • There is no known way to prevent development of CF in a person with two defective gene copies.
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  • Carrier-A person who possesses a gene for an abnormal trait without showing signs of the disorder.
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  • The person may pass the abnormal gene on to offspring.
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  • Cystic fibrosis results when a person has two defective copies of the CFTR gene.
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  • Albinism is a autosomal recessive disease, which means that a person must have two copies of the defective gene to exhibit symptoms of the disease.
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  • The child therefore inherits one defective gene responsible for making melanin from each parents.
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  • It is also possible to inherit one normal gene and one albinism gene.
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  • In this case, the one normal gene provides enough information to make some pigment, and the child has normal skin and eye color.
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  • About one in 70 people are albinism carriers, with one defective gene but no symptoms; they have a 50 percent chance of passing the albinism gene to their child.
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  • However, if both parents are carriers with one defective gene each, they have a one in four chance of passing on both copies of the defective gene to the child, who will have albinism.
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  • There is also a type of ocular albinism that is carried on the X chromosome and occurs almost exclusively in males because they have only one X chromosome and, therefore, no other gene for the trait to override the defective one.
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  • In the early 2000s, a blood test has been developed that can identify carriers of the gene for some types of albinism; a similar test during amniocentesis can diagnose some types of albinism in an unborn child.
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  • Some people can carry the gene for these defects, but be free of symptoms; although the defects are passed from parents to children, the parents often do not have the disorders themselves.
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  • Genetic testing can be used, in some cases, to identify the defective gene.
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  • This condition has an X-linked, recessive pattern of inheritance, meaning that the defective gene is carried on the X chromosome.
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  • A female who carries a defective recessive gene on one of her two X chromosomes will not have the disease because she also has one good X chromosome.
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  • However, she has a 50 percent chance of passing the defective gene to her sons.
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  • The sons inheriting one defective gene will develop the disorder because a male has only one X chromosome, which he receives from his mother and one Y chromosome from his father.
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  • The mother also has a 50 percent chance of passing the defective recessive gene to her daughters who will be carriers of the disorder (like their mother), but will not show symptoms of the disease.
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  • Women who are carriers of the defective gene can also be identified by a blood test.
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  • Gaucher disease has a recessive pattern of inheritance, meaning that a person must inherit a copy of the defective gene from both parents in order to have symptoms of the disease.
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  • The defective gene that causes this disorder is found in roughly one in 250 people in the general population.
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  • Tay-Sachs disease has a recessive pattern of inheritance, and approximately one in every 27 people of Jewish ancestry in the United States carries the TSD gene.
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  • Carriers of the Tay-Sachs related gene can be identified with a blood test.
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  • Recessive-Refers to an inherited trait that is outwardly obvious only when two copies of the gene for that trait are present.
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  • An individual displaying a recessive trait must have inherited one copy of the defective gene from each parent.
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  • X-linked-A gene carried on the X chromosome, one of the two sex chromosomes.
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  • A person with only one defective gene copy will not show signs of FA, but may pass along the gene to offspring.
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