Mutations Sentence Examples

The large fragment deletion mutations were located in a hot spot for deletion mutations were located in a hot spot for deletion that has been reported.

No specific measures can prevent the gene mutations that cause MPS.

As a consequence of co-evolution with their hosts, viruses have acquired host genes and genetic mutations that confer dominance over normal cell function.

The mechanism of other dominant mutations such as the one that causes myotonic dystrophy is not yet known.

Alien genetic material invading genomes also give rise to gene mutations, some of which may result in cancer.

Then twentieth-century biologists explained heredity and adaptation as a result of genes and mutations.

Members noted that mutations are found in all chemically induced cancers.

The results indicated a low frequency of microsatellite length mutations as the association was consistent across several breeds.

The attenuating mutation at residue 91 in VP3 is shown in cyan, and all suppressor mutations are shown in white.

Milder disease was observed in some cases carrying missense mutations as compared with those carrying truncating mutations.

These genes are often screened for somatic mutations only in the region most likely to contain mutations.

This project addresses how missense mutations are analyzed before an interpreted report is issued.

Missense mutation analysis This project is investigating the application of bioinformatic tools to determine the pathogenicity of unclassified missense mutations.

It was not able to induce point and frameshift mutations in haploid Saccharomyces cerevisiae cells.

However, the inserted transposon efficiently creates mutations in genes such as recessive oncogenes associated with cancer.

Single strand conformational polymorphism (SSCP) analysis and direct sequencing of TSG101 cDNAs also identified no mutations or deletions.

Mutations in DNA repair genes are strong candidates for at least a proportion of these unknown breast cancer predisposition alleles.

If the affected proband is homozygous or compound heterozygous suggest family screening (parents, siblings, children) for HFE mutations.

Underlying molecular defect CF is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein.

This data then allows us to design further mutations to achieve higher selectivity.

The organism can be cultured under defined conditions The organism is genetically tractable -- e.g., transformable, prone to introduction of designed mutations.

In mice, myosin V mutations lead to defects in synaptic transmission.

These changes and mutations only have an effect at the point where a new zygote is created.

Such mutations are not the product of the environment, but are an outcrop of the constitution of the germinal material of the varying organism, the result either of causes as yet undetected, or of the premutations and eliminations suggested by the work of Mendel (see Mendelism).

From this fundamental difference between the view held by history and that held by jurisprudence, it follows that jurisprudence can tell minutely how in its opinion power should be constituted and what power-- existing immutably outside time--is, but to history's questions about the meaning of the mutations of power in time it can answer nothing.

The team found the mystery protein through screening random mutations in mice.

One of the current challenges is the application of ribozyme therapy for dominant mutations coupled with wild-type gene augmentation to overcome haploinsufficiency.

Mutation analysis of 30 families that are affected by Lafora disease detected mutations in 10 families, which segregated with disease status.

These are both missense mutations, changing the valine residue at 287 to leucine 19 or to methionine 20.

In the most contaminated areas, aquatic animal and birds are directly affected, reducing their reproductive abilities, causing mutations, or killing them outright.

His mutations include an internal power generator and a cybernetic computer that regulates his abilities.

Cancer results from alterations (mutations) in genes that make up DNA, the master molecule of the cell.

Gene mutations can produce faulty proteins, which in turn produce abnormal cells that no longer divide and reproduce in an orderly manner.

Genetic testing uses molecular probes to identify gene mutations that have been linked to specific cancers.

Tumor-specific proteins that are part of unique genetic mutations in pediatric cancer, for example, are believed to be ideal targets for anti-tumor immune processes.

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.

However, the specific genes and the mutations have not yet been found as of 2004 for most types.

Because it has just been discovered, not much is known about how mutations in this gene cause CMT.

It is known as of 2004 that this is not a separate type of CMT; in fact, people who have onset in infancy or early childhood often have mutations in the PMP22 or MPZ genes.

More research is required to understand how mutations in these genes cause CMT.

As of early 2001, testing is available to detect mutations in PMP22, MPZ, Cx32 and EGR2.

Several gene mutations causing hereditary fructose intolerance have been identified.

Genetic testing with DNA analysis may be available to identify one of the common gene mutations that lead to this disorder.

Mutations in these genes can affect basic construction as well as the fine-tuned processing of the collagen.

Changes or mutations in genes can cause genetic diseases in several different ways, many of which are represented within the spectrum of EDS.

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.

Between 15 and 25 percent of cases result from spontaneous mutations.

Mutations of the fibrillin gene (FBNI) are unique to each family affected by Marfan, which makes rapid genetic diagnosis impossible, given present technology.

Marfan syndrome that occurs because of spontaneous new mutations (15% to 25% of the cases) cannot be prevented.

Also, older fathers are more likely to have new mutations appear in chromosome 15.

The gene defects in CF are called point mutations, meaning that the gene is mutated only at one small spot along its length.

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.

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.

Primary or secondary amenorrhea associated with genetic mutations or other systemic diseases or disorders is not preventable.

Investigations are underway to determine the specific genetic mutations that can cause dwarfism.

Variations that cause disease are called mutations and A-T results from a defective gene, the ATM gene (for ataxia telangiectasia, mutated), first identified in 1995.

Mutations in ATM prevent cells from repairing DNA damage, which may lead to cancer.

Mutations can also signal cells in the brain to die inappropriately, causing the movement and coordination problems associated with A-T.

Sequencing detects more than 95 percent of ATM sequence alterations but significant difficulties exist in distinguishing normal variations from A-T-causing mutations.

But the cloning of the ATM gene responsible for A-T as of 2004 allows physicians or cancer genetics professionals to conduct genetic testing, analyzing patients' DNA to look for A-T mutations in the ATM gene.

Specific mutations in the MEFV gene are more common in certain ethnic groups and may cause a somewhat different course of the disease.

Researchers think that a few mutations in the MEFV gene likely became common in a small population in the eastern Mediterranean several thousand years ago.

Mutations in the MEFV gene (short for Mediterranean fever) on chromosome number 16 are the underlying cause of FMF.

Autosomal recessive inheritance means that a person with FMF has mutations in both copies of the MEFV gene.

Direct analysis of the MEFV gene for FMF mutations is the only method to be certain of the diagnosis.

While it was as of 2004 not yet possible to detect all MEFV gene mutations that might cause FMF, successful cloning of the MEFV gene has led to a rapid test that can identify the most common mutations of the gene.

Scientists believe that Brugada syndrome is caused by mutations in the gene SCN5A, which involves cardiac sodium channels.

Researchers believe DiGeorge sequence most often is caused by mutations in genes in the region 22q11.

They involve mutations in the proteins that transport copper, that is, in special channels that allow the passage of copper ions through cell membranes.

With many of the MPS conditions, several mutations have been found in each gene involved that can cause symptoms of each condition.

Changes (mutations) in genes involving the metabolism of folic acid are believed to be significant genetic risk factors.

Spina bifida may arise because of chromosome abnormalities, single gene mutations, or specific environmental insults such as maternal diabetes mellitus or prenatal exposure to certain anticonvulsant drugs.

The gene is shared, but the mutations, inheritance, and specific symptoms of these two diseases are different.

This enzyme deficiency is caused by mutations in the ferrochelatase gene (FECH) located at 18q21.3.

As of 2004 there is no way to prevent the genetic mutations that cause myopathies, nor are there ways to prevent metabolic and endocrine failures that result in myopathies.

It is not possible to prevent the transmission of an abnormal peroxisomal gene from parent to child or spontaneous mutations that may arise.

Alpha thalassemias result from changes (mutations) in these genes.

The severity of the disease is influenced by the exact thalassemia mutations inherited, as well as other genetic and environmental factors.

There are rare exceptions, notably with beta thalassemia, where globin gene mutations exhibit a dominant pattern of inheritance in which only one gene needs to be altered in order to see disease expression.

There are approximately one hundred genetic mutations that have been described that cause beta thalassemia, designated as either beta0 or beta+ mutations.

When both parents carry the beta thalassemia trait, there is a 25 percent chance that each of their children will inherit beta thalassemia disease by inheriting two beta thalassemia mutations, one from each parent.

The clinical severity of the beta thalassemia disease depends largely on whether the mutations inherited are beta0 thalassemia or beta+ thalassemia mutations.

Two beta0 mutations generally lead to beta thalassemia major, and two beta+ thalassemia mutations generally lead to beta thalassemia intermedia, a milder form of the disease.

Sometimes a child may end up with more than 46 chromosomes because of problems with the father's sperm or the mother's egg or because of mutations that occurred after the sperm and the egg fused to form the embryo (conception).

An extra copy of a particular chromosome can come either from the egg or sperm or from mutations that occur after conception.

The cause of such mutations is not known.

There is no way to prevent the genetic mutations that cause DM.

It is caused by mutations in a gene known as LIM Homeobox Transcription Factor 1-Beta (LMX1B), located on the long arm of chromosome 9.

Mutations in this gene have been detected in many unrelated people with nail-patella syndrome.

Hyper-IgM syndrome is caused by mutations in a gene or genes in the body's T cells, which are a type of white blood cell or lymphocyte.

About 70 percent of patients diagnosed with XHIM have inherited the disorder through their mother; about 30 percent of cases, however, are caused by new mutations.

As both forms of hyper-IgM syndrome are caused by genetic mutations, there is no way to prevent the disorders after the child is born.

As many as one-third of the cases of DMD are due to new mutations that arise during egg formation in the mother.

New mutations are less common in other forms of muscular dystrophy.

Family history may give important clues, since all the muscular dystrophies are genetic conditions (though no family history will be evident in the event of new mutations).

Mutations in the PAH gene prevent the liver from producing adequate levels of the PAH enzyme needed to break down phenylalanine.

The PAH gene and its PKU mutations are found on chromosome 12 in the human genome.

In more detail, PKU mutations can involve many different types of changes, such as deletions and insertions, in the DNA of the gene that codes for the PAH enzyme.

The normal PAH gene is dominant to recessive PKU mutations.

This is because there are at least 400 different types of PKU mutations.

Although some PKU mutations cause rather mild forms of the disease, others can initiate much more severe symptoms in untreated individuals.

Subsequent diagnostic procedures (called mutation analysis and genotype determination) can actually identify the specific types of PAH gene mutations inherited by PKU infants.

Large-scale studies have helped to clarify how various mutations affect the ability of patients to process phenylalanine.

Amniocentesis is a method of withdrawing amniotic fluid from the placenta to allow examination of fetal cell DNA shed into the amniotic fluid, helping to identify genetic mutations.

In addition, DNA testing can help identify the gene mutations that can cause the condition.

Mutations in what are called fibroblast growth factor receptors (FGR1, 2, and 3) and the transcription factor TWIST are responsible for several types of craniosynostosis.

Both diseases involve mutations in copper transport proteins, special channels that allow copper ions to pass through cell membranes.

In either case, there are specific gene changes or mutations which lead to a defect in the elastic tissue forming the walls of the ductus arteriosus.

Congenital brain defects may be caused by inherited genetic defects, spontaneous mutations within the genes of the embryo, or effects on the embryo due to the mother's infection, trauma, or drug use.

A minority of cases of Angelman's syndrome are due to new mutations in this same area of genes.

These mutations can cause inherited or genetic disorders.

Although galactosemia occurs in all ethnic groups worldwide, some mutations cause a less severe type of disease and are more commonly seen in specific ethnic groups, such as African-Americans.

Mutations that inactivate the RET gene are the most frequent, occurring in 50 percent of familial cases (cases which run in families) and 15 to 20 percent of sporadic (non-familial) cases.

Mutations in these genes do not cause the disease, but they make the chance of developing it more likely.

Mutations in other genes or environmental factors are required to develop the disease, and these other factors are not understood.

All MEN types are the result of inherited genetic mutations that predispose the individual to excessive growth of cells (hyperplasia) and tumor formation in multiple endocrine glands.

Both MEN 2A and MEN 2B are caused by mutations in another gene, known as RET.

A number of different mutations can lead to MEN 2A, but only one specific genetic alteration causes MEN 2B.

Even in the absence of treatment, a few individuals with MEN 2A mutations never show any symptoms at all.

As of 2004 there is no way to block the occurrence of genetic mutations that cause MEN.

As of 2000, over 100 different mutations had been found in the gene among WAS patients.

The fact that there are many mutations explains some of the variability of symptoms among boys with WAS.

The mild form, X-linked thrombocytopenia, is also caused by mutations in this same gene.

While autism has been linked to environmental causes, genetic mutations, child immunizations, and chemical imbalances, the truth is that a definitive cause simply hasn't been found.

The 1950's ushered in the nuclear and space ages and the movies followed suit, giving us science fiction/horror films based on radioactive mutations.

Spontaneous gene mutations have been found to be present in some cases of ASD.

A study funded in part by the National Institute of Mental Health states that these spontaneous mutations are 10 times more likely to be found in autistic individuals than in the general public.

Some researchers have proposed that brain differences related to autism may be due to several genetic mutations.

The interactions of these mutations and their effect on neurological development may account for some of the significant brain differences seen in those with autism.

There's a wide array of group exercises out there, ranging from gentle pilates for pregnant women to hardcore martial arts mutations focusing on core strength.

As generations pass, mythology and religion form, and as the ship loses its way, mutations create a subspecies that menace the ship's inhabitants.

The mutations of opinion on the subject during the last fifty years have been remarkable.

A due appreciation of the far-reaching results of " correlated variation " must, it appears, give a new and distinct explanation to the phenomena which are referred to as " large mutations," " discontinuous variation " and " saltatory evolution."

Professor Flinders Petrie, in his Huxley Lecture for 1906 on Migrations (reprinted by the Anthropological Institute), deals with the mutations and movements of races from an anthropological standpoint with profound knowledge and originality.

He proposed the term " mutations " for the minute progressive changes of single characters in definite directions as observed in successive stratigraphic levels.

More recent analysis has shown, however, that certain modifications observed within the same stratigraphic level are really grades of mutations which show divergences comparable to those found in successive levels.

He also demonstrated that mutations have this special or distinctive character, that they repeat in the same direction without oscillation or retrogression.

He expressed great reserve as to the causes of these mutations.

Huxley questioned the time value of fossils, but recent research has tended to show that identity of species and of mutations is, on the whole, a guide to synchroneity, though the general range of vertebrate and invertebrate life as well as of plant life is generally necessary for the establishment of approximate synchronism.

Such gradations, termed " mutations " by Waagen, are distinguished, as observed, in single characters; they are the xx.

Bit by bit mutations are added to each other in different single characters until a sum or degree of mutations is reached which no zoologist would hesitate to place in a separate species or in a separate genus.

The mutations of Waagen may possibly, in fact, prove to be identical with the " definite variations " or " rectigradations " observed by Osborn in the teeth of mammals.

The essence of Waagen's law is orthogenesis, or evolution in a definite direction, and, if there does exist an internal hereditary principle controlling such orthogenetic evolution, there does not appear to be any essential contradiction between its gradual operation in the " mutations of Waagen " and its occasional hurried operation in the " mutations of de Vries," which are by their definition discontinuous or saltatory (Osborn, 1907).

It should be remembered that palaeontology is the most unfavourable field of all for observation and demonstration of sudden saltations or mutations of character, because of the limited materials available for comparison and the rarity of genetic series.

De Vries gave the name "mutations" to such considerable variations (it is to be noted that a further concept, that of the mode of origin, has been added to the word mutation, and that the conception of relative size is being removed from it), and Bateson, de Vries and other writers have added many striking cases to those recorded by Darwin.

Even amongst the extreme advocates of the theory of mutations, the importance of magnitude is being discounted by their suggestion that some of the minute variations which have hitherto been regarded by them as insignificant "fluctuating variations" may be significant mutations.

The variations which de Vries has called mutations, and which were at first associated by Bateson with what he called discontinuous variations as the exclusive source of new species, are now supposed by de Vries to be distinguished from fluctuating variations by their mode of origin.

And so the newer school discard acquired characters and all the Lamarckian factors and leave the board clear for "mutations."

Breeders, he says, who try to build up qualities by the selection of the fluctuating variations that occur soon find that they reach a maximum beyond which their efforts fail, unless they turn to the more rarely occurring but heritable mutations.

And finally, there are a series of variations, amongst which no doubt are the mutations of de Vries and the disintegrations and recombinations of the unit factors with which Mendel and his followers have worked, in which the external or environmental factor is most remote from the actual result.

Some defects are similar to those seen in OI but others have been point mutations causing aberrant splicing of one or more exons.

In 5/6 patients the wild-type allele was lost in the tumor samples, suggesting a causal role for the mutations in RCC.

The incidence of retinal angioma does not appear to be correlated with specific germline mutations.

Our early work established mutations in genes encoding members of the visual transduction cascade as important in these diseases.

Molecules are able to activate chloride conductance in airway cell line, primary human cell cultures and most importantly from cells with CFTR mutations.

We have evidence for point mutations, recombination, gene conversions, and unequal crossing-over within and between homologs at this complex locus.

Genetic trail The test also allows detection of any of the genetic mutations which can cause cystic fibrosis.

We have also been attempting to estimate the rate of adaptive amino acid substitution and the proportion of mutations which are slightly deleterious.