• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

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.

PMID:677122
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685578/
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。

相似文献

1
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone.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。
Am J Hum Genet. 1978 May;30(3):256-61.
2
Role of genetic drift in the high frequency of Tay-Sachs disease among Ashkenazic Jews.
Ann Hum Genet. 1979 Oct;43(2):133-6. doi: 10.1111/j.1469-1809.1979.tb02005.x.
3
Tay-Sachs disease: a pilot screening program for the detection of the heterozygote in the Charleston Jewish community.泰-萨克斯病:查尔斯顿犹太社区中检测杂合子的一项试点筛查计划。
South Med J. 1976 Nov;69(11):1453-5.
4
The TSD gene among Ashkenazic Jews: founder effect and genetic drift.
Prog Clin Biol Res. 1977;18:107-10.
5
The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin.北美犹太人群中的泰-萨克斯病基因:地理变异与起源
Am J Hum Genet. 1983 Nov;35(6):1258-69.
6
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.己糖胺酶测定和DNA分析在检测阿什肯纳兹犹太人中泰-萨克斯病基因携带者时的特异性和敏感性。
Genet Epidemiol. 1992;9(3):169-75. doi: 10.1002/gepi.1370090303.
7
Tay-Sachs disease: genetic drift among the Ashkenazim Jews.
Soc Biol. 1977 Summer;24(2):117-34. doi: 10.1080/19485565.1977.9988272.
8
Founder effect in Tay-Sachs disease unlikely.泰-萨克斯病不太可能存在奠基者效应。
Am J Hum Genet. 1972 May;24(3):341-2.
9
Testing for the Tay-Sachs gene in the Atlanta Jewish population.
South Med J. 1977 Jul;70(7):833-7. doi: 10.1097/00007611-197707000-00022.
10
Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.在患有泰-萨克斯病的携带者中,戈谢病携带者的比例较低。
Eur J Hum Genet. 1998 Mar-Apr;6(2):185-6. doi: 10.1038/sj.ejhg.5200176.

引用本文的文献

1
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.
2
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.阿什肯纳兹犹太裔 BRCA1 和 BRCA2 突变携带者中的单体型结构。
Hum Genet. 2011 Nov;130(5):685-99. doi: 10.1007/s00439-011-1003-z. Epub 2011 May 20.
3
Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations.德系犹太人及所在的非犹太欧洲人群中Y染色体变异的对比模式。
Hum Genet. 2004 Mar;114(4):354-65. doi: 10.1007/s00439-003-1073-7. Epub 2004 Jan 22.
4
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.导致阿什肯纳兹犹太人患泰-萨克斯病的1278insTATC突变的起源与传播:遗传漂变作为一个有力且简洁的假说
Hum Genet. 2004 Mar;114(4):366-76. doi: 10.1007/s00439-003-1072-8. Epub 2004 Jan 15.
5
Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.德系犹太人种群中疾病突变的地理分布支持了遗传漂变而非选择。
Am J Hum Genet. 2003 Apr;72(4):812-22. doi: 10.1086/373882. Epub 2003 Feb 24.
6
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.旧秩序门诺派中芬兰型先天性肾病综合征的发病率升高及等位基因异质性。
Am J Hum Genet. 1999 Dec;65(6):1785-90. doi: 10.1086/302687.
7
Heterozygote advantage in Tay-Sachs carriers?泰-萨克斯病携带者的杂合子优势?
Am J Hum Genet. 1981 May;33(3):375-80.
8
The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin.北美犹太人群中的泰-萨克斯病基因:地理变异与起源
Am J Hum Genet. 1983 Nov;35(6):1258-69.
9
Differences in the frequency of X-linked deleterious genes in human populations.人类群体中X连锁有害基因频率的差异。
Am J Hum Genet. 1983 Nov;35(6):1252-7.
10
Marital mores as a mechanism for the maintenance of ethnic variations of lethal gene frequencies.婚姻习俗作为维持致死基因频率种族差异的一种机制。
Am J Hum Genet. 1986 Oct;39(4):477-88.

本文引用的文献

1
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.
2
Population dynamics of Tay-Sachs disease. I. Reproductive fitness and selection.泰-萨克斯病的种群动态。I. 生殖适合度与选择
Am J Hum Genet. 1966 Jul;18(4):313-27.
3
On the maintenance of polymorphisms having an inviable homozygote.关于具有致死纯合子的多态性的维持。
Ann Hum Genet. 1970 Jan;33(3):307-17. doi: 10.1111/j.1469-1809.1970.tb01655.x.
4
Heterozygous effects and frequency changes of lethal genes in populations.群体中致死基因的杂合效应及频率变化。
Genetics. 1969 Nov;63(3):669-80. doi: 10.1093/genetics/63.3.669.
5
Founder effect in Tay-Sachs disease unlikely.泰-萨克斯病不太可能存在奠基者效应。
Am J Hum Genet. 1972 May;24(3):341-2.
6
Controversy in human genetics: founder effect in Tay-Sachs disease.人类遗传学中的争议:泰-萨克斯病的奠基者效应。
Am J Hum Genet. 1972 May;24(3):339-40.
7
Large deviations in the distribution of rare genes.稀有基因分布中的大偏差。
Am J Hum Genet. 1973 Nov;25(6):594-7.
8
Founder effect in Tay-Sachs disease.泰-萨克斯病中的奠基者效应。
Am J Hum Genet. 1973 Jan;25(1):108.
9
The transient distribution of allele frequencies under mutation pressure.突变压力下等位基因频率的瞬态分布。
Genet Res. 1976 Dec;28(3):205-14. doi: 10.1017/s0016672300016906.
10
Tay-Sachs disease: high gene frequency in a non-Jewish population.泰-萨克斯病:在非犹太人群体中的高基因频率。
Am J Hum Genet. 1975 May;27(3):287-91.