This website uses cookies to ensure you get the best experience. Learn more

mutation

mutation

mutation Sentence Examples

  • There's never been a mutation like this in the history of our people.

    125
    65
  • If it's hereditary, then the mutation has been hidden from us for, like, maybe even hundreds of thousands of years.

    73
    64
  • If it's hereditary, then the mutation has been hidden from us for, like, maybe even hundreds of thousands of years.

    73
    65
  • We need to know how many people have this mutation and where they are, Kris ordered.

    59
    51
  • Thus arose the system of " initial mutation ": an initial consonant may retain its original form, or may undergo any of the changes to which it is subject.

    32
    28
  • Thus arose the system of " initial mutation ": an initial consonant may retain its original form, or may undergo any of the changes to which it is subject.

    32
    28
  • The nasal mutation occurs after fy, " my," and yn, " in "; thus fy mhen, " my head " (pen, " head "), yn Nhalgarth, " at Talgarth."

    30
    32
  • The spirant mutation occurs after a, " and," " with," ei, " her "; thus a phen, " and a head," ei phen, " her head."

    28
    27
  • Although the original mutation was not caused by human activity, human activity preserved and perpetuated it.

    27
    26
  • As then the Ent is one, invariable and immutable, all plurality, variety and mutation belong to the Nonent.

    25
    20
  • This varying rate of evolution has (illogically, we believe) been compared with and advanced in support of the "mutation law of De Vries,"or the theory of saltatory evolution, which we may next consider.

    20
    23
  • Her Mutation de fortune, in which she finds room for a great deal of history and philosophy, was presented to the same patron on New Year's Day, 1404.

    18
    22
  • The collective term " mutation," as now employed by palaeontologists, signifies a type modified to a slight degree in one or more of its characters along a progressive or definite line of phyletic development.

    17
    23
  • And I won't share how to counter her mutation so you don't end up at Sasha's feet.

    17
    32
  • By some writers the word " mutation " is applied only to large and suddenly appearing variations which are found to be capable of hereditary transmission, whilst the term " fluctuation " is applied to small variations whether capable of transmission or not.

    16
    23
  • The term " mutation " also applies to a single new character and for distinction 1 may be known as " the mutation of Waagen."

    16
    23
  • Hence the theory of the unity of nature is necessarily followed by a theory of its seeming plurality, that is to say, of the variety and mutation of things.

    14
    19
  • 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.

    13
    32
  • This revolution may be accomplished by adding the term " mutation ascending " or " mutation descending " for the minute steps of transformation, and the term phylum, as employed in Germany, for the minor and major branches of genetic series.

    12
    24
  • Here, if we attend to the effect of the whole revolution, we shall find that the electric states of the respective masses have been greatly increased; for the ninety-nine parts in A and B remain, and the one part of electricity in C has been increased so as nearly to compensate ninety-nine parts of the opposite electricity in the revolving plate B, while the communication produced an opposite mutation in the electricity of the ball.

    11
    23
  • It is certainly a very striking fact that wherever we have been able to trace genetic series, either of invertebrates or vertebrates, in closely sequent geological horizons, or life zones, we find strong proof of evolution through extremely gradual mutation simultaneously affecting many parts of each organism, as set forth above.

    10
    25
  • The absolute agreement in the results independently obtained by these various investigators, the interpretation of individual development as the guide to phyletic development, the demonstration of continuous genetic series, each mutation falling into its proper place and all showing a definite direction, constitute contributions to biological philosophy of the first importance, which have been little known or appreciated by zoologists because of their publication in monographs of very special character.

    10
    26
  • This change is called the " soft mutation."

    1
    0
  • carriers of a mutation for hereditary nonpolyposis colorectal cancer who were 25 years of age.

    1
    0
  • These phenotypic variations have been shown to relate to the specific mutation generated, to environmental influences and to independently segregating modifier genes.

    1
    0
  • In studies of families into which infants with OI type II were born, most of the babies had a new dominant mutation in a collagen gene.

    1
    0
  • A small number of patients with PWS have a change (mutation) in the genetic material on the chromosome 15 inherited from their father.

    1
    0
  • With closed eyes, between sleeping and waking, many people see faces, landscapes and other things flash upon their view, pictures often brilliant, but of very brief duration and rapid mutation.

    0
    0
  • This is exactly the nomenclature system laid down by Owen, Cope, Marsh and others, although established without any understanding of the law of mutation.

    0
    0
  • This change is called the " nasal mutation."

    0
    0
  • This change is called the " spirant mutation."

    0
    0
  • You might have an Immortal bloodline somewhere in your ancestry or a simple mutation.

    0
    0
  • There's never been a mutation like this in the history of our people.

    0
    0
  • The mutation started sometime after our births, Kris, Gabriel voiced.

    0
    0
  • We need to know how many people have this mutation and where they are, Kris ordered.

    0
    0
  • And I won't share how to counter her mutation so you don't end up at Sasha's feet.

    0
    0
  • Title The factor V Leiden mutation in Japanese couples with recurrent spontaneous abortion.

    0
    0
  • antisense therapy works by injecting drugs carrying small fragments of genetic code which blind the cell's protein manufacturing machinery to the mutation.

    0
    0
  • For years, breeders have used " mutation breeding " to develop new varieties.

    0
    0
  • Relatives of mutation carriers were genotyped in order to study the segregation of mutant alleles with obesity.

    0
    0
  • causative mutation.

    0
    0
  • The same mutation of the tabby gene is now believed to produce the king cheetah 's coat.

    0
    0
  • Not to mention tossing persistent mutation and cancer-causing chemicals into our ship's air and water recyclers.

    0
    0
  • A chemo-induced gene mutation can happen when the original chemo received does not work.

    0
    0
  • In some cases a single gene mutation has quite clear-cut consequences.

    0
    0
  • Copying by reverse transcriptase is prone to errors, leading to a high mutation rate and appearance of drug resistant clones.

    0
    0
  • The second mutation introduces a premature stop codon in the mature protein 34.

    0
    0
  • MPB-91 is also able to activate conductance in primary cell cultures taken from patients with the D 508 mutation.

    0
    0
  • Such a mutation could for example be in one of the DNA-binding helices introducing a kink in a normally straight and rigid helical conformation.

    0
    0
  • The p53 gene mutation was detected by fluorescence-based polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) methods.

    0
    0
  • cystic fibrosis A description of the common disease causing mutation in Cystic Fibrosis with links to many other resources.

    0
    0
  • Genetic characterization of the legs at odd angles angles locus, a new mutation causing motor neuron degeneration in a gene dose dependent manner.

    0
    0
  • A mutation in a receptor for the neurotransmitter dopamine has been found on chromosome 11 or 18.

    0
    0
  • Zebrafish embryos with a mutation called gridlock show faulty development of blood vessels in the lower portion of the body.

    0
    0
  • They therefore decided to test fourteen patients diagnosed with " vaccine encephalopathy " for this mutation.

    0
    0
  • Typically a mutation in one of these genes causes exon skipping with the deletion of exon 6 from the corresponding mRNA.

    0
    0
  • genetic mutation.

    0
    0
  • And some fascinating information about the " sonic hedgehog " mutation.

    0
    0
  • inactivated by mutation.

    0
    0
  • inactivated by mutation.

    0
    0
  • inactivateerefore not surprising that inactivating mutation in CLK results in drastic phenotypes.

    0
    0
  • incubated for 19-20 days. A Lutino color mutation is known but still remains fairly uncommon.

    0
    0
  • influenza pandemic could result from such a mutation of virus strains.

    0
    0
  • The risk of a parent with the gene passing the mutation on to a child is 50% (autosomal dominant inheritance ).

    0
    0
  • However, with no planktonic larva the dispersal of the mutation will be slow.

    0
    0
  • Therefore mutation provides a mechanism for adding random genetic material into the chromosome by changing one or more of the gene values at random.

    0
    0
  • affinity maturation is a consequence of somatic mutation in Ig gene segments.

    0
    0
  • missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.

    0
    0
  • monogenic diabetes is diabetes caused by a mutation in a single gene.

    0
    0
  • Not everyone who has inherited a genetic mutation for Gaucher disease from both parents has symptoms.

    0
    0
  • The attenuating mutation at residue 91 in VP3 is shown in cyan, and all suppressor mutations are shown in white.

    0
    0
  • More recently, I have been involved in the detailed determination of gene function through induced mutation of the genes encoding renin.

    0
    0
  • mutation in exons 20 to 24 and their flanking introns were found in any of the 35 patients.

    0
    0
  • mutation in a patterning gene could give rise to a simple heart defect, not a full scale patterning defect.

    0
    0
  • However a gap remained between linking a genetic mutation to the outcome of the disease.

    0
    0
  • That is, women with negative results for BRCA1 mutation are still at risk of cancer.

    0
    0
  • mutation assay in Salmonella.

    0
    0
  • mutation carriers be managed differently from sporadic cases?

    0
    0
  • Missense mutation analysis This project is investigating the application of bioinformatic tools to determine the pathogenicity of unclassified missense mutations.

    0
    0
  • The survival rate in the 24 patients with p53 mutation did not differ significantly from that in the 16 patients without p53 mutation.

    0
    0
  • Many members of Li-Fraumeni families have a germline mutation of the TP53 gene.

    0
    0
  • Importantly, in rare families, a gene mutation has been shown to cause the abnormal build up of tau protein in the brain.

    0
    0
  • By contrast, a woman with a heteroplasmic mtDNA mutation, may transmit a variable amount of mutated mtDNA to her children.

    0
    0
  • nonsense mutation, R501X, in affected individuals.

    0
    0
  • Experts believe the next influenza pandemic could result from such a mutation of virus strains.

    0
    0
  • AB - PURPOSE: To identify the mutation in the RB1 gene in a Syrian family showing incomplete penetrance of retinoblastoma (RB ).

    0
    0
  • A better understanding of the factors that underlie variable penetrance in mutation carriers is needed to augment our ability to counsel individual women.

    0
    0
  • If a mutated allele is fully penetrant this means all individuals who have this mutation will develop the disease.

    0
    0
  • However, mis-sense mutation associated with a mild phenotype might be missed in aggregation studies depending on the dose of agonist used.

    0
    0
  • Nevertheless, mouse models of CF clearly demonstrate a range of abnormal pulmonary phenotypes as a result of the Cftr mutation.

    0
    0
  • prion mutation in cattle, or possibly sheep.

    0
    0
  • prothrombin mutation.

    0
    0
  • recessive mutation in need of preservation!

    0
    0
  • If the mutation is dominant or or incompletely recessive, resistance will spread despite the refuge.

    0
    0
  • restriction enzyme analysis once the site of the mutation is known.

    0
    0
  • segregatehenotypic variations have been shown to relate to the specific mutation generated, to environmental influences and to independently segregating modifier genes.

    0
    0
  • somatic mutation is being used to follow the clonal history of the tumor cell clone.

    0
    0
  • sonic hedgehog " mutation.

    0
    0
  • The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation.

    0
    0
  • de Vries, Species and Varieties and their Origin by Mutation; Eimer, Organic Evolution; Gulick, " Divergent Evolution through Cumulative Segregation," Jour.

    0
    0
  • By some writers the word " mutation " is applied only to large and suddenly appearing variations which are found to be capable of hereditary transmission, whilst the term " fluctuation " is applied to small variations whether capable of transmission or not.

    0
    0
  • With closed eyes, between sleeping and waking, many people see faces, landscapes and other things flash upon their view, pictures often brilliant, but of very brief duration and rapid mutation.

    0
    0
  • The collective term " mutation," as now employed by palaeontologists, signifies a type modified to a slight degree in one or more of its characters along a progressive or definite line of phyletic development.

    0
    0
  • The term " mutation " also applies to a single new character and for distinction 1 may be known as " the mutation of Waagen."

    0
    0
  • The absolute agreement in the results independently obtained by these various investigators, the interpretation of individual development as the guide to phyletic development, the demonstration of continuous genetic series, each mutation falling into its proper place and all showing a definite direction, constitute contributions to biological philosophy of the first importance, which have been little known or appreciated by zoologists because of their publication in monographs of very special character.

    0
    0
  • This revolution may be accomplished by adding the term " mutation ascending " or " mutation descending " for the minute steps of transformation, and the term phylum, as employed in Germany, for the minor and major branches of genetic series.

    0
    0
  • This is exactly the nomenclature system laid down by Owen, Cope, Marsh and others, although established without any understanding of the law of mutation.

    0
    0
  • Waagen's law of mutation, or the appearance of new parts or organs so gradually that they can be perceived only by following them through successive geologic time stages, appears to be directly contradictory to the saltation principle; it is certainly one of the most firmly established principles of palaeontology, and it constitutes the contribution par excellence of this branch of zoology to the law of evolution, since it is obvious that it could not possibly have been deduced from comparison of living animals but only through the long perspective gained by comparison of animals succeeding each other in time.

    0
    0
  • It is certainly a very striking fact that wherever we have been able to trace genetic series, either of invertebrates or vertebrates, in closely sequent geological horizons, or life zones, we find strong proof of evolution through extremely gradual mutation simultaneously affecting many parts of each organism, as set forth above.

    0
    0
  • This varying rate of evolution has (illogically, we believe) been compared with and advanced in support of the "mutation law of De Vries,"or the theory of saltatory evolution, which we may next consider.

    0
    0
  • Here, if we attend to the effect of the whole revolution, we shall find that the electric states of the respective masses have been greatly increased; for the ninety-nine parts in A and B remain, and the one part of electricity in C has been increased so as nearly to compensate ninety-nine parts of the opposite electricity in the revolving plate B, while the communication produced an opposite mutation in the electricity of the ball.

    0
    0
  • 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.

    0
    0
  • Species and Varieties, their Origin by Mutation (Chicago, 1905); The Mutation Theory (London, 1910); A.

    0
    0
  • Her Mutation de fortune, in which she finds room for a great deal of history and philosophy, was presented to the same patron on New Year's Day, 1404.

    0
    0
  • This change is called the " soft mutation."

    0
    0
  • This change is called the " nasal mutation."

    0
    0
  • This change is called the " spirant mutation."

    0
    0
  • The initial mutations, then, are as follows: The initial mutation of any word depends upon its position in the sentence, and is determined by a grammatical rule which can ordinarily be traced to a generalization of the original phonetic conditions.

    0
    0
  • The more important rules for initial mutation are the following: the soft mutation occurs in a feminine singular noun after the article, thus y fam, " the mother " (radical mam); in an adjective following a feminine singular noun, as in mam dda, " a good mother " (da, " good "); in a noun following a positive adjective, as in hen dd9n, " old man," because this order represents what was originally a compound; in a noun following dy, " thy," and ei, " his," thus dy ben," thy head," ei ben, " his head " (pen," head "); in the object after a verb; in a noun after a simple preposition; in a verb after the relative a.

    0
    0
  • The nasal mutation occurs after fy, " my," and yn, " in "; thus fy mhen, " my head " (pen, " head "), yn Nhalgarth, " at Talgarth."

    0
    0
  • The spirant mutation occurs after a, " and," " with," ei, " her "; thus a phen, " and a head," ei phen, " her head."

    0
    0
  • As then the Ent is one, invariable and immutable, all plurality, variety and mutation belong to the Nonent.

    0
    0
  • Hence the theory of the unity of nature is necessarily followed by a theory of its seeming plurality, that is to say, of the variety and mutation of things.

    0
    0
  • Charcoal is a recessive mutation in need of preservation !

    0
    0
  • If the mutation is dominant or or incompletely recessive, resistance will spread despite the refuge.

    0
    0
  • OM1 mutants produce excess orange pigment, caused by a mutation in a repressor gene that normally keeps the pigment at low levels.

    0
    0
  • This technique is rapid and involves little more work than restriction enzyme analysis once the site of the mutation is known.

    0
    0
  • With regard to the molecular background, no mutation of the p53 or retinoblastoma susceptibility (Rb) genes has been demonstrated.

    0
    0
  • Mutation analysis of 30 families that are affected by Lafora disease detected mutations in 10 families, which segregated with disease status.

    0
    0
  • The mutation was present in the heterozygous form and completely segregated with the disease in this family.

    0
    0
  • The pattern of somatic mutation is being used to follow the clonal history of the tumor cell clone.

    0
    0
  • No other exonic or splice site mutation was identified.

    0
    0
  • The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation.

    0
    0
  • The mutation produces a good solo timbre, a kind of cornet substitute.

    0
    0
  • Depending on when and where the mutation occurs, the trisomic cells can vary from very few to nearly 100 %.

    0
    0
  • The breed may have started from a genetic mutation.

    0
    0
  • One particularly lethal offender is Feline Infectious Peritonitis (FIP), a disease that is brought on by a mutation of a feline enteric coronavirus.

    0
    0
  • The disease is called a prion disease because it is caused by a protein mutation in the brain.

    0
    0
  • Some research also reveals a possible mutation with hypocretin in addition to the deficiency, making it more difficult for the body to regulate normal sleep cycles.

    0
    0
  • However, what was really disappointing for me was the mutation system.

    0
    0
  • Pinot Blanc: A white mutation of the Pinot Noir grape (the red wine grape grown throughout the Burgundy region), Pinot Blanc resembles Chardonnay and often grows alongside these grapes.

    0
    0
  • Mutation - This is also referred to as being "genetically unstable."

    0
    0
  • Basically, the mutation of grapes means that its characteristics change on a genetic level.

    0
    0
  • The other cases of NF occur due to a spontaneous mutation (a permanent change in the structure of a specific gene).

    0
    0
  • Once such a spontaneous mutation has been established in an individual, however, it can then be passed on to any offspring.

    0
    0
  • There is no known way to prevent NF cases that occur as a result of spontaneous change in the genes (mutation).

    0
    0
  • 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.

    0
    0
  • 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.

    0
    0
  • In most people who have CMT, the mutation that causes the condition is a duplication (doubling) of the PMP22 gene.

    0
    0
  • 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.

    0
    0
  • A point mutation is like a typo in the gene that causes it to work incorrectly.

    0
    0
  • HNPP is a condition that is also caused by a mutation in the PMP22 gene.

    0
    0
  • Another type of CMT, called CMT1B, is caused by a mutation in a gene called myelin protein zero (MPZ), located on chromosome 1.

    0
    0
  • 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.

    0
    0
  • Thus, when a male has a mutation in his Cx32 gene, he will have CMT.

    0
    0
  • If they have a mutation in one copy of their Cx32 genes, they will only have mild to moderate symptoms of CMT that may go unnoticed.

    0
    0
  • If a woman with a Cx32 mutation passes her normal X chromosome, she will have an unaffected son or daughter who will not pass CMT on to his or her children.

    0
    0
  • If the woman passes the chromosome with Cx32 mutation on she will have an affected son or daughter, although the daughter will be mildly affected or have no symptoms.

    0
    0
  • Therefore, a woman with a Cx32 mutation has a 50 percent, or a one in two, chance of passing the mutation to her children: a son will be affected, and a daughter may only have mild symptoms.

    0
    0
  • Since the Cx32 mutation is on the X chromosome, a man with CMTX will always pass the Cx32 mutation on to his daughters.

    0
    0
  • Therefore, an affected male passes the Cx32 gene mutation on to all of his daughters, but to none of his sons.

    0
    0
  • In order for individuals to have CMT4, they must have a mutation in both of their CMT-causing genes, one inherited from each parent.

    0
    0
  • They have one normal copy of the gene and one copy with a mutation.

    0
    0
  • Therefore, once a mutation is found in one affected member, it is possible to test other members who may have symptoms or are at risk of developing CMT.

    0
    0
  • Testing during pregnancy to determine whether an unborn child is affected is possible if genetic testing in a family has identified a specific CMT-causing mutation.

    0
    0
  • Prenatal testing is available for pregnancies in which an affected parent has been identified and the DNA mutation is known or the biochemical defect has been demonstrated.

    0
    0
  • 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.

    0
    0
  • 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.

    0
    0
  • The genetic mutation responsible for Marfan was discovered in 1991.

    0
    0
  • 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.

    0
    0
  • WS is a genetic disorder that can be inherited but often arises through spontaneous change in a chromosome (mutation).

    0
    0
  • An accident or mutation in genetic development may also cause retardation.

    0
    0
  • 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.

    0
    0
  • In other words, the delta-F508 mutation is a loss of one "letter" out of thousands within the CFTR gene.

    0
    0
  • Most of these people do not have the delta-F508 mutation but a different one, which presumably allows at least some of their CFTR proteins to function normally in the pancreas.

    0
    0
  • 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.

    0
    0
  • Those who carried a single "beneficial" mutation in the MEFV gene were more likely to survive and reproduce, which may explain the high carrier frequency (up to one in five) in some populations.

    0
    0
  • Kotone-Miyahara, Y., et al. "E148Q/M6941 Mutation in 3 Japanese Patients with Familial Mediterranean Fever."

    0
    0
  • Toitou, I., et al. "Infevers: An Evolving Mutation Database for Auto-Inflammatory Syndromes."

    0
    0
  • Human Mutation 24 (September 2004): 194-98.

    0
    0
  • With regard to diseases leading to mineral toxicity, about one person in ten in the United States has the genetic mutation that can lead to hemochromatosis; however, not everyone with this mutation necessarily develops the disease.

    0
    0
  • Wilson's disease, which is caused by a mutation of the ATP7B gene on chromosome 13, first produces symptoms in teenagers and young adults.

    0
    0
  • Menkes disease-A genetic disease caused by a mutation on the X chromosome and resulting in impaired transport of copper from the digestive tract.

    0
    0
  • MPS only occurs when both of an individual's genes that produce the same enzyme contain a mutation or defect, causing them not to function properly.

    0
    0
  • If the specific mutation is known in a family, DNA analysis may be possible.

    0
    0
  • There is scientific evidence that VP is caused by mutation in the gene for protoporphyrinogen oxidase located at 1q22.

    0
    0
  • Only one of these two copies needs to have the mutation (change) or defect in order for the child to have the disease.

    0
    0
  • The children of female carriers have a 50 percent chance of having the genetic mutation, which means that sons who inherit the mutation have the disease, and daughters who inherit the mutation are carriers.

    0
    0
  • Fragile X syndrome is caused by a mutation in the FMR-1 gene, located on the X chromosome.

    0
    0
  • Another study estimated that one in 4,000 females is affected by the full mutation.

    0
    0
  • There is a 50 percent risk for a premutation carrier female for transmitting an abnormal mutation with each pregnancy.

    0
    0
  • The likelihood for the premutation to expand is related to the number of repeats present; the higher the number of repeats, the greater the chance that the premutation will expand to a full mutation in the next generation.

    0
    0
  • All mothers of a child with a full mutation are carriers of an FMR-1 gene expansion.

    0
    0
  • Once the size of the premutation exceeds 230 repeats, it becomes a full mutation, and the FMR-1 gene is disabled.

    0
    0
  • Individuals who carry the full mutation may have fragile X syndrome.

    0
    0
  • Males who inherit the full mutation are expected to have mental impairment.

    0
    0
  • A female's normal X chromosome may compensate for her chromosome with the fragile X gene mutation.

    0
    0
  • Females who inherit the full mutation have an approximately 30-50 percent risk of mental impairment, ranging from mild learning disability to mental retardation and behavioral problems.

    0
    0
  • In females who carry a full mutation, the physical and behavioral features and mental retardation tend to be less severe.

    0
    0
  • About 50 percent of females who have a full mutation are mentally retarded.

    0
    0
  • Individuals with the premutation or full mutation may be identified through genetic testing.

    0
    0
  • Genetic testing for and detection of the fragile X mutation can be performed on the developing baby before birth through amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling.

    0
    0
  • Premutation-A change in a gene that precedes a mutation; this change does not alter the function of the gene.

    0
    0
  • Neither the fragile X premutation nor mutation is preventable as of 2004.

    0
    0
  • No beta globin is produced with a beta0 mutation, and only a small fraction of the normal amount of beta globin is produced with a beta+ mutation.

    0
    0
  • When an individual has one normal beta globin gene and one with a beta thalassemia mutation, he or she is said to carry the beta thalassemia trait.

    0
    0
  • Inheritance of one beta0 and one beta+ thalassemia mutation tends to be less predictable.

    0
    0
  • Mosaicism-A genetic condition resulting from a mutation, crossing over, or nondisjunction of chromosomes during cell division, causing a variation in the number of chromosomes in the cells.

    0
    0
  • This occurs as a result of a spontaneous mutation of the gene in either the sperm or egg.

    0
    0
  • Called new dominant mutation, the affected child subsequently has a 50 percent of passing the abnormal gene to his or her children.

    0
    0
  • Instead of mutation occurring in an individual sperm or egg, it occurs in a percentage of the cells that give rise to a parent's multiple sperm or eggs.

    0
    0
  • This mutation, present in a percentage of his or her reproductive cells, can result in more than one affected child without affecting the parent with the disorder.

    0
    0
  • When OI occurs as a new dominant mutation and is found inadvertently on ultrasound, it may be difficult to confirm the diagnosis until after delivery since other genetic conditions can cause bowing and/or fractures prenatally.

    0
    0
  • Genetic material can be extracted from the fetal cells contained in the amniotic fluid and tested for the specific mutation known to cause OI in that family.

    0
    0
  • This technique is useful only when the mutation causing OI in a particular family has been identified through previous genetic testing of affected family members, including previous pregnancies involving a baby with OI.

    0
    0
  • In an autosomal dominant pattern of inheritance, only one of these two copies needs to have the mutation (change) or defect in order for the child to have DM.

    0
    0
  • The most common type of DM is called DM1, which is caused by a mutation in a gene called myotonic dystrophy protein kinase (DMPK).

    0
    0
  • The specific mutation that causes DM1 is called a trinucleotide repeat expansion.

    0
    0
  • Some families with symptoms of DM do not have a mutation in the DMPK gene.

    0
    0
  • Instead, they have a mutation in a gene on chromosome 3 that causes four units within the gene to be repeated.

    0
    0
  • If genetic testing in a family has identified a DMPK mutation, it is possible to test a fetus during pregnancy.

    0
    0
  • When a parent has nail-patella syndrome, each of the children has a 50 percent chance to inherit the disease-causing mutation.

    0
    0
  • A new mutation causing nail-patella syndrome can also occur, causing disease in a child with no family history of the syndrome.

    0
    0
  • Hyper-IgM syndrome is caused by a mutation in a gene on the X chromosome that affects the patient's T cells.

    0
    0
  • The most common telltale symptom, however, is PCP; in fact, the frequency of Pneumocystis carinii pneumonia in children with hyper-IgM syndrome was a useful clue to geneticists searching for the mutation that causes the disorder.

    0
    0
  • Turner syndrome usually occurs sporadically, which means that the mutation occurs during fetal development and is not inherited from either parent.

    0
    0
  • More than half of all girls with Turner syndrome are mosaics, which means that the mutation occurs in some but not all cells of their body.

    0
    0
  • It is possible that this mutation affects nearby genes as well, and that the widespread symptoms of myotonic dystrophy are due to a range of genetic disruptions.

    0
    0
  • However, PKU carriers can pass the PKU genetic mutation on to their children.

    0
    0
  • The more severe the PKU mutation, the greater the effect on cognitive development and performance (mental ability).

    0
    0
  • Subsequent diagnostic procedures (called mutation analysis and genotype determination) can actually identify the specific types of PAH gene mutations inherited by PKU infants.

    0
    0
  • 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.

    0
    0
  • This disorder is the result of a genetic mutation.

    0
    0
  • Hemophilia is a coagulation disorder arising from a genetic defect of the X chromosome; the defect can either be inherited or result from spontaneous gene mutation.

    0
    0
  • The other 30 percent develop from a spontaneous genetic mutation.

    0
    0
  • These individuals have had the unfortunate occurrence of a spontaneous mutation, meaning that in their early development, some random genetic accident affected their X chromosome, resulting in the defect that causes hemophilia A or B.

    0
    0
  • Once such a spontaneous genetic mutation takes place, offspring of the affected person can inherit the newly created, flawed chromosome.

    0
    0
  • D., et al. "A Mitochondrial DNA Mutation (A3243G mtDNA) in a Family with Cyclic Vomiting."

    0
    0
  • An autosomal dominant form of VWD can be inherited from either parent or can occur as a spontaneous gene mutation (change) in the embryo that is formed when the egg and sperm cells come together during fertilization.

    0
    0
  • However, in some cases, a change or mutation in a gene can cause it to not function.

    0
    0
  • In galactosemia, the gene mutation which occurs is inherited in what is known as an autosomal recessive pattern.

    0
    0
  • Since galactosemia is a recessive genetic disease, it is usually first detected on a newborn screening test, as most people are not aware that they are carriers of a gene mutation causing the disease.

    0
    0
  • In some cases, skeletal abnormalities are inherited from one or both parents or occur as a result of genetic mutation.

    0
    0
  • MEN 1 is caused by a mutation at the PYGM gene on chromosome 11.

    0
    0
  • When a second mutation occurs, the cell that contains the mutation no longer has any normal copy of the tumor suppressor gene.

    0
    0
  • A mutation in only one copy of the RET gene is sufficient to cause disease.

    0
    0
  • However, even within the same family, affected individuals with the identical WAS gene mutation may have different degrees of severity of the disease.

    0
    0
  • The syndrome is caused by a defect (mutation) in a specific gene called the WAS gene that normally codes for the protein named Wiskott-Aldrich syndrome protein (WASP).

    0
    0
  • It is also possible to confirm the diagnosis by obtaining a small sample of the patient's blood and analyzing the DNA for a mutation in the WAS gene.

    0
    0
  • Information about the exact mutation and the quantity of WAS protein the defective gene can produce may help predict the severity of the individual's condition.

    0
    0
  • If the specific WAS gene mutation is identified in an affected child, that child's mother can then be tested to confirm that she carries the gene.

    0
    0
  • Other members of the mother's family may also want to consider testing to find out if they carry the same gene mutation.

    0
    0
  • The key is to first identify the particular WAS gene mutation in the child with WAS.

    0
    0
  • Then, early in a pregnancy, cells can be obtained from the developing fetus by chorionic villus sampling or amniocentesis and checked for the same mutation.

    0
    0
  • This mutation prevents certain genes on chromosome 15 from working properly.

    0
    0
  • Approximately 2-5 percent of patients with PWS have a change (mutation) in a gene located on the q arm of chromosome 15.

    0
    0
  • This mutation leads to incorrect imprinting.

    0
    0
  • This mutation causes genes inherited from the father to be imprinted or silenced, which should not normally be imprinted.

    0
    0
  • If a child has PWS due to a mutation that changes imprinting, the chance the parents could have another child with PWS is approximately 5 percent.

    0
    0
  • Although methylation testing can accurately diagnose PWS, it cannot determine if the PWS is caused by a deletion, maternal uniparental disomy, or a mutation that disrupts imprinting.

    0
    0
  • More specialized DNA testing is required to detect maternal uniparental disomy or a mutation that disrupts imprinting.

    0
    0
  • The results of these tests showed that 97 percent of the blue-eyed people in the study showed an identical mutation on thirteen of their chromosomes.

    0
    0
  • The researchers further concluded that there had been a mutation in the chromosome of the test respondents who did not have brown eyes.

    0
    0
  • This mutation was like a switch that had reduced the production of melanin.

    0
    0
  • Those who have inherited this mutation switch do not have brown eyes - and instead, have lighter colored, often blue, eyes.

    0
    0
  • The Danish blue-eyed genealogy study has led to the theory that blue eyes started with one person who had a mutation on their chromosome that shut off the production of melanin in their iris.

    0
    0
  • This mutation could have occurred as far back as 6000 or 10,000 years.

    0
    0
  • Down syndrome is a chromosomal mutation that can be identified during pregnancy through amniocentesis.

    0
    0
  • This is because Rett's Disorder is caused by a genetic mutation.

    0
    0
  • FXS is caused by a mutation in a gene on the X chromosome that interferes with the production of a protein needed for proper brain development.

    0
    0
  • The FMR1 gene can be passed from parent to child in a premutation form, which then may or may not fully mutate to cause Fragile X, or as a full mutation.

    0
    0
  • A father who carries the Fragile X mutation can only pass the milder, premutation form of the FMR1 gene to his daughters, even if he carries the full mutation gene.

    0
    0
  • Mothers who carry the altered gene can pass it to children of either sex, and can transmit the genetic condition in either the premutation or full mutation form.

    0
    0
  • Mothers who have one mutated X chromosome and one normal copy have a 50 percent chance of passing the mutation to each child they bear, though they are very likely to show no symptoms of fragile X themselves.

    0
    0
  • A simple blood test will reveal MECP2 mutation, but this mutation is also seen in other types of development disorders.

    0
    0
  • In addition, doctors need to find the presence of the MECP2 mutation to make a molecular diagnosis or they need to diagnosis the condition based on diagnostic criteria.

    0
    0
  • The severity of the condition, and the likely course the disease will take, is dependent on the location of the mutation and other factors.

    0
    0
  • It is estimated that 99.5 percent of the time, the mutation of the genes occurs sporadically.

    0
    0
  • Researchers also found that the missing DNA was present in the affected children's neurotypical parents, meaning the mutation is spontaneous and rarely passes directly from parent to child.

    0
    0
  • According to the National Institute of Neurological Disorders and Stroke, each of these conditions have a genetic component, whether a mutation of a single gene or more complicated vehicle for inheritance.

    0
    0
  • Rett's syndrome is the only pervasive developmental that has a known cause (MECP2 gene mutation).

    0
    0
  • While the brain differences associated with autism can't be traced back to a single gene mutation or difference, many researchers believe that genetics can play a role in developing the disorder.

    0
    0
  • Scientific experiments grafted Godzilla cells with her, and caused a mutation that included dinosaur like protrusions on the plant's surface.

    0
    0
  • splice site mutation was identified.

    0
    1
  • The mutation produces a good solo timbre, a kind of cornet substitute.

    0
    1
Browse other sentences examples →