Zimran A, Gelbart T, Westwood B, Grabowski G A, Beutler E
Department of Medicine, Shaare Zedek Medical Center, Jerusalem.
Am J Hum Genet. 1991 Oct;49(4):855-9.
Reliable estimates of the frequency of Gaucher disease-producing mutations are not available. The high frequency of Gaucher disease in the Ashkenazi Jewish population is due to the occurrence of a mutation at nucleotide (nt) 1226. We have screened 593 DNA samples from normal Ashkenazi Jews, as well as 62 DNA samples from all our Ashkenazi Jewish patients with Gaucher disease, for the presence of the 1226 mutation. In the 593 presumed normal Ashkenazi Jewish individuals the 1226 mutation was identified in the heterozygous state in 37 and in the homozygous state in two, giving a gene frequency of .035 for the mutation. This 1226 mutation represented 73% of the 124 Gaucher disease alleles in Jewish Gaucher disease patients. Accordingly we estimate that the gene frequency for Gaucher disease among the Ashkenazi Jewish population is .047, which is equivalent to a carrier frequency of 8.9% and a birth incidence of 1:450.
目前尚无对产生戈谢病的突变频率的可靠估计。在德系犹太人中戈谢病的高发病率是由于在核苷酸（nt）1226处发生了一种突变。我们筛查了593份来自正常德系犹太人的DNA样本，以及62份来自我们所有患戈谢病的德系犹太患者的DNA样本，以检测1226突变的存在情况。在593名推测为正常的德系犹太个体中，有37人检测到处于杂合状态的1226突变，2人检测到处于纯合状态的该突变，该突变的基因频率为0.035。在犹太戈谢病患者的124个戈谢病等位基因中，这种1226突变占73%。因此，我们估计德系犹太人群中戈谢病的基因频率为0.047，这相当于携带者频率为8.9%，出生发病率为1:450。
