CARRIER FREQUENCY OF THE BLOOM-SYNDROME BLM(ASH) MUTATION IN THE ASHKENAZI JEWISH POPULATION

Bloom syndrome is more common in individuals of Ashkenazi Jewish desce nt than in any other population, and one particular mutation in the Bl oom syndrome gene, blm(Ash), is homozygous in nearly all Ashkenazi Jew ish persons with Bloom syndrome. We have determined the frequency of b lm(Ash) in 1491 Ashkenazi Jewish persons with no known history of Bloo m syndrome and found that 1 in 107 persons was heterozygous. Although not common, genetic screening for Bloom syndrome is feasible in this p opulation, (C) 1998 Academic Press.