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法罗群岛囊性纤维化的高发病率:一项分子与系谱学研究。

High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study.

作者信息

Schwartz M, Sørensen N, Brandt N J, Høgdall E, Holm T

机构信息

Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.

出版信息

Hum Genet. 1995 Jun;95(6):703-6. doi: 10.1007/BF00209491.

Abstract

We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1:24, given a calculated incidence of 1:2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.

摘要

我们研究了法罗群岛囊性纤维化(CF)的遗传学情况。根据1954年至1993年期间出生的患病儿童数量,CF的出生发病率为1:1775,这是丹麦其他地区发病率的两倍多。我们对所有已知的CF患者和/或其父母进行了检测,以确定是否存在ΔF508突变,并发现它是该人群中唯一的CF突变。基于对881名无关对照个体的检测,在计算发病率为1:2300的情况下,携带者频率估计为1:24。系谱研究使我们能够追溯其中几个家族七代人的情况。家族内部的单倍型研究表明,ΔF508可能由两位始祖引入,他们可能来自布列塔尼、爱尔兰、威尔士或苏格兰西北部的凯尔特人种群。

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