Linkage disequilibrium and founder effect analysis of the NF1 gene in French Canadians from the Quebec population

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• 作者：Fang ; Li Juan ; Li ; Wentian ; Chalhoub ; Nader ; Feingold ; Josué ; Ortenberg ; June ; Thirion ; Jean-Paul
• 关键词：Neurofibromatosis type 1 (NF1) ; Microsatellite ; Linkage disequilibrium ; French Canadians ; Founder effect
• 刊名：Annales de Genetique
• 出版年：2002
• 出版时间：January - March, 2002
• 年：2002
• 卷：45
• 期：1
• 页码：39-44
• 全文大小：73.1 K

文摘

We genotyped 19 neurofibromatosis type 1 (NF1) families from French Canadians of the Quebec population with four intragenic microsatellites (IVS26-2.3, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0). Linkage analysis of the four microsatellite markers among the 19 NF1 families indicates that the four microsatellites are strongly linked with NF1 disease (LOD = 2.76–3.64). The four markers are associated (P = 0–0.077) except marker pair IVS26-2.3/IVS27AC33.1 (P = 0.18 or 0.17). However, perhaps due to the high mutation rate of the NF1 gene, no founder effect for NF1 was detected in the Quebec French Canadians.