Elevated spontaneous mutation rate in Bloom syndrome fibroblasts.
نویسندگان
چکیده
منابع مشابه
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts.
The rates of spontaneous mutation to 6-thioguanine resistance were determined in fibroblasts derived from normal and two Bloom syndrome individuals (GM 2548 and GM 1492). Two methods were utilized to determine the rates. Method I obtained the spontaneous mutation rate from the increase in the mutation frequency of a cell population in logarithmic-phase growth over 10 days. The two Bloom syndrom...
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A novel approach was used to estimate the in vivo mutation rate of the retinoblastoma gene. A mathematical formula can be used to calculate the probability of neoplasia induced by one or more mutations in a population of dividing cells. This formula can then be applied to epidemiological data on hereditary and sporadic retinoblastoma. The analysis yields an estimate of the in vivo mutation rate...
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BACKGROUND The Bloom syndrome gene, BLM, was mapped to 15q26.1 and its product was found to encode a RecQ DNA helicase. The Fanconi's anemia complementation group C gene was mapped to chromosome 9q22.3, but its product function is not sufficiently clear. Both are recessive disorders associated with an elevated predisposition to cancer due to genomic instability. A single predominant mutation of...
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Men age and die, while cells in their germline are programmed to be immortal. To elucidate how germ cells maintain viable DNA despite increasing parental age, we analysed DNA from 24 097 parents and their children, from Europe, the Middle East and Africa. We chose repetitive microsatellite DNA that mutates (unlike point mutations) only as a result of cellular replication, providing us with a na...
متن کاملMutation rate of a microsatellite sequence in normal human fibroblasts.
Dinucleotide repeats, because of their repetitive nature, are prone to frameshift mutations, most likely via a DNA-polymerase slippage mechanism. Mutation rates in microsatellite DNA sequences are high in mismatch repair-defective cells. In normal cells, only estimates of maximal rates of mutation in microsatellites have been possible previously, because of the low sensitivity of screening assa...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1981
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.78.5.3133