对民主德国囊性纤维化患者中F508缺失的首次分析。

First analysis of the F508 deletion in cystic fibrosis patients from the GDR.

作者信息

Grade K, Will K, Szibor R, Gedschold J, Brückner R, Bauer I, Giermann K, Gorki H, Hein J, Brell U

机构信息

Zentralinstitut für Molekularbiologie, Akademie der Wissenschaften der DDR, Berlin.

出版信息

Hum Genet. 1990 Sep;85(4):406-7. doi: 10.1007/BF02428280.

DOI:10.1007/BF02428280

PMID:1976592

Abstract

Cystic fibrosis (CF) patients (n = 157) from the GDR were analysed for the occurrence of the recently discovered 3bp deletion causing CF. About 50% of all investigated patients were homozygotes and about 30% heterozygotes for this deletion. Of the analysed CF chromosomes from these patients, 62% carry the deletion, which is in strong linkage disequilibrium with the KM19 restriction fragment length polymorphism allele 2 and the 1/2 XV2c/KM19 haplotype.

摘要

对来自民主德国的157例囊性纤维化（CF）患者进行分析，以确定最近发现的导致CF的3bp缺失的发生情况。在所有接受调查的患者中，约50%为该缺失的纯合子，约30%为杂合子。在这些患者分析的CF染色体中，62%携带该缺失，其与KM19限制性片段长度多态性等位基因2以及1/2 XV2c/KM19单倍型处于强连锁不平衡状态。