Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population

Lei Li, Christine Eng, Robert J. Desnick, James German, Nathan Ellis

Research output: Contribution to journalArticle

59 Citations (Scopus)

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, blm(Ash), is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blm(Ash) 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.

Original languageEnglish (US)
Pages (from-to)286-290
Number of pages5
JournalMolecular Genetics and Metabolism
Volume64
Issue number4
DOIs
StatePublished - Aug 1998
Externally publishedYes

Fingerprint

Ashes
Bloom Syndrome
Mutation
Population
Screening
Genes
Genetic Testing

Keywords

  • Bloom syndrome
  • Carrier screening
  • Founder effect
  • Genetic testing
  • Jewish genetic disease

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population. / Li, Lei; Eng, Christine; Desnick, Robert J.; German, James; Ellis, Nathan.

In: Molecular Genetics and Metabolism, Vol. 64, No. 4, 08.1998, p. 286-290.

Research output: Contribution to journalArticle

Li, Lei ; Eng, Christine ; Desnick, Robert J. ; German, James ; Ellis, Nathan. / Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population. In: Molecular Genetics and Metabolism. 1998 ; Vol. 64, No. 4. pp. 286-290.
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