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南非的瓦登伯革氏综合征。第二部分。I型是否存在奠基者效应?

Waardenburg syndrome in South Africa. Part II. Is there founder effect for type I?

作者信息

de Saxe M, Kromberg J G, Jenkins T

出版信息

S Afr Med J. 1984 Aug 25;66(8):291-3.

PMID:6474292
Abstract

Three South African families of Afrikaner descent with the Waardenburg syndrome (WS) type I have been traced back for 12 generations. The families may be related through a French Huguenot couple who came to the Cape in 1683. Although the number of families in this study is small and the information incomplete and, although the earliest known family member with WS was born in 1842, the findings suggest that founder effect for the gene for WS type I may possibly exist in the Afrikaner population of South Africa.

摘要

三个具有Ⅰ型瓦登伯革氏综合征(WS)的南非阿非利卡人后裔家族已追溯了12代。这些家族可能通过一对1683年来到好望角的法国胡格诺派夫妇联系在一起。尽管本研究中的家族数量较少且信息不完整,尽管已知最早患有WS的家族成员出生于1842年,但研究结果表明,Ⅰ型WS基因的奠基者效应可能存在于南非的阿非利卡人群体中。

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