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1
Ethnic variation of genetic disease: roles of drift for recessive lethal genes.
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2
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone.
Am J Hum Genet. 1978 May;30(3):256-61.
3
Distribution of gene frequencies in a geographically structured population. II. Distribution of deleterious genes and of lethal genes.
Ann Hum Genet. 1972 Apr;35(4):425-32. doi: 10.1111/j.1469-1809.1957.tb01867.x.
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The effects of genetic screening and assortative mating on lethal recessive-allele frequencies and homozygote incidence.
Am J Hum Genet. 1987 Oct;41(4):671-7.
5
The frequency of recessive lethal heterozygotes among inidividuals obtained from inbred strains. A random-number simulation study.
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6
Genetic drift in sex-linked lethal disorders.
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7
Selection against recessive deleterious and lethal alleles.
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8
Marital mores as a mechanism for the maintenance of ethnic variations of lethal gene frequencies.
Am J Hum Genet. 1986 Oct;39(4):477-88.
9
A general solution to a genetic selection problem involving recessive lethals.
J Hered. 1970 Mar-Apr;61(2):49-50. doi: 10.1093/oxfordjournals.jhered.a108034.
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Social mechanisms in the population genetics of Tay-Sachs and other lethal autosomal recessive diseases: a computer simulation model.
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引用本文的文献
1
The population genetics of human disease: The case of recessive, lethal mutations.
PLoS Genet. 2017 Sep 28;13(9):e1006915. doi: 10.1371/journal.pgen.1006915. eCollection 2017 Sep.
2
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13.
3
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
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4
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
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.
Am J Hum Genet. 2003 Apr;72(4):812-22. doi: 10.1086/373882. Epub 2003 Feb 24.
6
Reduction of bias in estimating the frequency of recessive genes.
Am J Hum Genet. 1980 Mar;32(2):212-22.
7
Heterozygote advantage in Tay-Sachs carriers?
Am J Hum Genet. 1981 May;33(3):375-80.
8
Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect.
Hum Genet. 1982;61(3):198-200. doi: 10.1007/BF00296441.
9
Differences in the frequency of X-linked deleterious genes in human populations.
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.
Am J Hum Genet. 1986 Oct;39(4):477-88.
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The Distribution of Gene Frequencies in Populations.
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Is Tay-Sachs disease increasing?
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