比利时患者中囊性纤维化基因F508缺失的患病率。
Prevalence of the delta F508 deletion of the cystic fibrosis gene in Belgian patients.
作者信息
Cochaux P, van Geffel R, Baran D, Poncin J, Vassart G
机构信息
Service de Génétique (Bat. C), Hôpital Erasme, Brussels, Belgium.
出版信息
Hum Genet. 1990 Sep;85(4):400. doi: 10.1007/BF02428275.
PMID:2210745
Abstract
A sample of 107 Belgian cystic fibrosis patients has been tested for the presence of the delta F508 deletion. We have shown that 166 (78%) of the CF chromosomes presented the deletion, and that 97% of the deleted chromosomes and 50% of the non-deleted chromosomes presented the haplotype B (KM19-2/XV2c-1).
摘要
对107名比利时囊性纤维化患者的样本进行了检测，以确定是否存在ΔF508缺失。我们已经表明，166条（78%）囊性纤维化染色体存在该缺失，并且97%的缺失染色体和50%的非缺失染色体呈现单倍型B（KM19 - 2/XV2c - 1）。
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