Human pathology

Home page > Technical section > Biology > Molecular biology > Population genetics > By geographic areas > Europe > ashkenazi jews

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.

References

- Feder J, Ovadia O, Glaser B, Mishmar D. Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group. Eur J Hum Genet. 2007 Apr;15(4):498-500. PMID: 17245410

- Slatkin M. A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases. Am J Hum Genet. 2004 Jun 18 PMID: 15208782

- Colombo R. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data. Am J Hum Genet. 2000 Feb;66(2):692-7. PMID: 10677327