X-chromosome mosaicism in females with muscular dystrophy.
نویسندگان
چکیده
7Bender, M. A., and P. C. Gooch, these PROCEEDINGS, 48, 522 (1962). 8Bender, M. A., and P. C. Gooch, Radiation Research, 16, 44 (1962). Iijima, T., and A. Hagiwara, Nature, 185, 395 (1960). 10 Levine, M., Virology, 13, 493 (1961). "1 Reich, E., A. J. Shatkin, and E. L. Tatum, Biochim. Biophys. Acta, 45, 608 (1960). 12 Ibid., 53, 132 (1961). 13Bal, A. K., and P. G. Gross, Science, 139, 584 (1963). 14Hurwitz, J., J. J. Furth, M. Malamy, and M. Alexander, these PROCEEDINGS, 48, 1222 (1962). 1Reich, E., R. M. Franklin, A. J. Shatkin, and E. L. Tatum, these PROCEEDINGS, 48, 1238 (1962).
منابع مشابه
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.
In 288 Dutch and Belgian Duchenne and Becker muscular dystrophy families, the parental origin of 41 new deletion or duplication mutations was determined. Twenty seven of the new mutations occurred in the maternal X chromosome and nine in the grandmaternal and five in the grandpaternal X chromosome. The grandparental data are compatible with equal mutation rates for DMD in male and female X chro...
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Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the dystrophin gene and is characterized by muscle degeneration and death. DMD affects males; females being asymptomatic carriers of mutations. However, some of them manifest symptoms due to a translocation between X chromosome and an autosome or to a heterozygous mutation leading to inactivation of most o...
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According to classical genetics, a recessive sex-linked or X-linked gene manifests its existence phenotypically only in the absence of its normal allele, that is, in the homozygous state or in the absence of a second X chromosome carrying the normal allele. The latter requirement is met, for instance, in males who have haemophilia as a sex-linked trait: they have only one X chromosome in their ...
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The Duchenne Muscular dystrophy (DMD) is the most frequent muscle disorder in childhood caused by mutations in the Xlinked dystrophin gene (about 65% deletions, about 7% duplications, about 26% point mutations and about 2% unknown mutations). The clinically milder Becker muscular dystrophy (BMD) is allelic to DMD. About 33% of all patients are due to de novo mutations and germ line mosaicism is...
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ورودعنوان ژورنال:
- Proceedings of the National Academy of Sciences of the United States of America
دوره 50 شماره
صفحات -
تاریخ انتشار 1963