Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

Mol Genet Metab. 1998 Aug;64(4):286-90. doi: 10.1006/mgme.1998.2733.

Abstract

Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blmAsh, is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blmAsh in 1491 Ashkenazi Jewish persons with no known history of Bloom syndrome and found that 1 in 107 persons was heterozygous. Although not common, genetic screening for Bloom syndrome is feasible in this population.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Base Sequence
  • Bloom Syndrome / ethnology
  • Bloom Syndrome / genetics*
  • DNA Helicases / genetics*
  • DNA Primers
  • Gene Frequency
  • Genetic Carrier Screening*
  • Humans
  • Jews*
  • Mutation*
  • RecQ Helicases

Substances

  • DNA Primers
  • Adenosine Triphosphatases
  • Bloom syndrome protein
  • DNA Helicases
  • RecQ Helicases