High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

摘要: Reliable estimates of the frequency Gaucher disease-producing mutations are not available. The high disease in Ashkenazi Jewish population is due to occurrence a mutation at nucleotide (nt) 1226. We have screened 593 DNA samples from normal Jews, as well 62 all our patients with disease, for presence 1226 mutation. In presumed individuals was identified heterozygous state 37 and homozygous two, giving gene .035 This represented 73% 124 alleles patients. Accordingly we estimate that among .047, which equivalent carrier 8.9% birth incidence 1:450.