NDLI: A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases

Content Provider	PubMed Central
Author	Slatkin, Montgomery
Copyright Year	2004
Abstract	A founder effect can account for the presence of an allele at an unusually high frequency in an isolated population if the allele is selectively neutral and if all copies are identical by descent with a copy that either was carried by a founder individual or arose by mutation later. Here, a statistical test of both aspects of the founder-effect hypothesis is developed. The test is performed by a modified version of a program that implements the Slatkin-Bertorelle test of neutrality. The test is applied to several disease-associated alleles found predominantly in Ashkenazi Jews. Despite considerable uncertainty about the demographic history of Ashkenazi Jews and their ancestors, available genetic data are consistent with a founder effect resulting from a severe bottleneck in population size between a.d. 1100 and a.d. 1400 and an earlier bottleneck in a.d. 75, at the beginning of the Jewish Diaspora. The relatively high frequency of alleles causing four different lysosomal storage disorders, including Tay-Sachs disease and Gaucher disease, can be accounted for if the disease-associated alleles are recessive in their effects on reproductive fitness.
Related Links	http://dx.doi.org/10.1086/423146
Ending Page	293
Page Count	12
Starting Page	282
File Format	PDF
ISSN	00029297
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	2
Volume Number	75
Language	English
Publisher	The American Society of Human Genetics
Publisher Date	2004-08-01
Access Restriction	Open
Rights Holder	The American Society of Human Genetics
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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