844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world

Anthropol Anz. 2004 Jun;62(2):147-55.

Abstract

The 844ins68 allele in the cystathionine beta-synthase gene is always found in cis with the T833C mutation further indicating that its origin is monophyletic and that it might be a useful anthropogenetic marker. Its frequency was examined in 1087 randomly chosen subjects from Israel (twelve Jewish communities and Palestinians), and found to range from 0.034 to 0.125. The heterogeneity among the Jewish communities spans most of the range encountered among Caucasoid populations and is in accordance both with other genetic markers examined in the Jewish communities and with genetic distance and discriminant analyses. 844ins68 cannot distinguish between various European regions, because of the marked heterogeneity of the allele frequency distribution in Europe. This distribution of the insertion does not follow a recognised pattern of any known colonisation process. Its use as a reliable anthropogenetic marker discriminating between the major human groups may also be problematic until more populations are sampled.

Publication types

  • Clinical Trial
  • Randomized Controlled Trial

MeSH terms

  • Arabs / ethnology
  • Arabs / genetics*
  • Arabs / statistics & numerical data*
  • Cystathionine beta-Synthase / genetics*
  • Gene Frequency
  • Genetic Markers / genetics
  • Genetic Testing
  • Heterozygote
  • Homocystinuria / ethnology
  • Homocystinuria / genetics
  • Humans
  • Internationality
  • Israel / epidemiology
  • Israel / ethnology
  • Jews / ethnology
  • Jews / genetics*
  • Jews / statistics & numerical data*
  • Mutation
  • Prevalence

Substances

  • Genetic Markers
  • Cystathionine beta-Synthase