Ashkenazi Jewish genetic disorders

Fam Cancer. 2004;3(3-4):201-6. doi: 10.1007/s10689-004-9545-z.

Abstract

The frequency of several genes responsible for 'single-gene' disorders and disease predispositions is higher among Ashkenazi Jews than among Sephardi Jews and non-Jews. The disparity is most likely the result of founder effect and genetic drift, rather than heterozygote advantage. The more common Mendelian Ashkenazi Jewish genetic disorders are summarized, and examples of variable expressivity and penetrance, inconsistent genotype-phenotype correlation, and potential modifiers are presented. The importance of genetic counseling in both the pre- and post-test phases of population screening is emphasized.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Dystonia Musculorum Deformans / ethnology
  • Dystonia Musculorum Deformans / genetics
  • Female
  • Gaucher Disease / ethnology
  • Gaucher Disease / genetics
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / ethnology*
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / ethnology*
  • Genetic Testing
  • Genetics, Population
  • Humans
  • Incidence
  • Jews / genetics*
  • Male
  • Prognosis
  • Risk Assessment
  • Survival Rate
  • Tay-Sachs Disease / ethnology
  • Tay-Sachs Disease / genetics

Substances

  • Genetic Markers