Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.
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.
Li
L
L
Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, New York 10029, USA.
Eng
C
C
Desnick
R J
RJ
German
J
J
Ellis
N A
NA
D000251:Adenosine Triphosphatases / Q000235:genetics*; D001483:Base Sequence; D001816:Bloom Syndrome / Q000208:ethnology / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D017931:DNA Primers; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D007585:Jews; D009154:Mutation; D053484:RecQ Helicases
D017931:DNA Primers; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases