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阿什肯纳兹犹太教正统社区的囊性纤维化杂合子筛查:多雷沙林方法与杂合子频率

Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency.

作者信息

Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E

机构信息

Department of Human Genetics, Hadassah Hebrew University Hospital, Hebrew University Hadassah Medical School, Jerusalem, Isreal.

出版信息

Eur J Hum Genet. 1996;4(6):338-41. doi: 10.1159/000472229.

Abstract

In the community of the Orthodox Jews most of the marriages are arranged a screening program that is aimed at preventing the marriage of two carriers of autosomal recessive disorders is conducted by the Dor Yesharim organization. A random sample of 6,076 individuals of the Orthodox Jewish Ashkenazi community, were screened for the five mutations common in Ashkenazi patients (delta F508, W1282X, G542X, N1303K, 3849 + 10Kb C-->T). Two hundred thirty-two carriers were identified, giving a heterozygote frequency of 1:26. The relative frequencies of the individual mutations in the general population were comparable to those in the patients.

摘要

在正统犹太人社群中,大多数婚姻都是包办的。多雷沙里姆组织开展了一项筛查项目,旨在防止两名常染色体隐性疾病携带者结婚。从正统犹太阿什肯纳兹社群的6076个人中随机抽取样本,对阿什肯纳兹患者中常见的五种突变(ΔF508、W1282X、G542X、N1303K、3849 + 10Kb C→T)进行了筛查。共识别出232名携带者,杂合子频率为1:26。一般人群中各突变的相对频率与患者中的相对频率相当。

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