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西欧囊性纤维化突变DF508频率的完整图谱以及突变频率与疾病发病率之间的相关性。

Complete map of cystic fibrosis mutation DF508 frequencies in Western Europe and correlation between mutation frequencies and incidence of disease.

作者信息

Lucotte G, Hazout S, De Braekeleer M

机构信息

International Institute of Anthropology, Paris, France.

出版信息

Hum Biol. 1995 Oct;67(5):797-803.

PMID:8543293
Abstract

The frequencies of DF508, the main cystic fibrosis mutation, vary among different populations in Western Europe; they are higher in northwestern Europeans than in southeastern populations. Our new analysis is based on results from 66 different laboratories on 17,886 cystic fibrosis chromosomes (from 70 locations and 26 countries). The correlation between DF508 frequency values and cystic fibrosis incidence is calculated in the corresponding groups.

摘要

主要的囊性纤维化突变DF508的频率在西欧不同人群中有所不同;在西北欧人群中的频率高于东南欧人群。我们的新分析基于66个不同实验室对17886条囊性纤维化染色体(来自70个地点和26个国家)的检测结果。在相应组中计算DF508频率值与囊性纤维化发病率之间的相关性。

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