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仅靠基因漂变,德系犹太人中泰-萨克斯病的发病率升高不太可能。

Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone.

作者信息

Chakravarti A, Chakraborty R

出版信息

Am J Hum Genet. 1978 May;30(3):256-61.

Abstract

Using the steady-state distribution of recessive lethal gene the probability of finding the elevated frequency of Tay-Sachs (TSD) gene among Ashkenazic Jews is computed. For various estimated values of mutation rate and population size, this probability is found to be statistically significant. This probabiltiy, in fact, becomes even smaller if a steady influx of foreign genes into the Ashkenazic Jewish populations is considered. It is suggested that heterozygote advantage together with random genetic drift should be considered as the most probable mechansim for the elevation of TSD gene frequency among the Ashkenazic Jews.

摘要

利用隐性致死基因的稳态分布,计算了在德系犹太人中发现泰-萨克斯病(TSD)基因频率升高的概率。对于突变率和种群大小的各种估计值,发现该概率具有统计学意义。事实上,如果考虑到外国基因持续流入德系犹太人群体,这个概率会变得更小。有人提出,杂合子优势与随机遗传漂变应被视为德系犹太人中TSD基因频率升高的最可能机制。

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引用本文的文献

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The population genetics of human disease: The case of recessive, lethal mutations.人类疾病的群体遗传学:隐性致死突变的案例
PLoS Genet. 2017 Sep 28;13(9):e1006915. doi: 10.1371/journal.pgen.1006915. eCollection 2017 Sep.

本文引用的文献

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The Distribution of Gene Frequencies in Populations.群体中基因频率的分布
Proc Natl Acad Sci U S A. 1937 Jun;23(6):307-20. doi: 10.1073/pnas.23.6.307.
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On the maintenance of polymorphisms having an inviable homozygote.
Ann Hum Genet. 1970 Jan;33(3):307-17. doi: 10.1111/j.1469-1809.1970.tb01655.x.

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