Variability of the genetic contribution of Quebec population founders associated to some deleterious genes.
Variability of the genetic contribution of Quebec population founders associated to some deleterious genes.
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魁北克人口创始人的遗传贡献的变异性与一些有害基因有关。
DOI：
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发表时间：
1995
影响因子：
9.8
通讯作者：
M. Tremblay
中科院分区：
文献类型：
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作者：
E. Heyer;M. Tremblay
在萨格奈地区（魁北克），一些罕见的遗传性疾病的发生率相对较高。为了理解这一现象，正在开展一个关于17世纪导致法裔加拿大人基因库形成的创始人效应的研究项目。本研究的重点是对Saguenay基因库做出贡献的创始人，以及与患有以下五种遗传性疾病中任何一种的当代先证者相关的创始人：囊性纤维化，酪氨酸血症，血色素沉着症，Charlevoix-Saguenay痉挛性共济失调和感觉运动性多神经病伴或不伴胼胝体发育不全。为了进行比较，增加了一个对照组。总共有545个提升宗谱被重建，使用人口研究所的RETRO数据库，导致超过2,500个创始人。每个创始人对每个群体的遗传贡献已经被测量。结果表明：（1）近80%的个体基因库来自17世纪定居在新法兰西的创始人，无论是哪个群体;（2）15%的创始人解释了创始人总遗传贡献的90%，但这种模式因群体而异;（3）没有创始人亚组与任何特定群体的个体更相关。
Relatively high frequencies of some rare inherited disorders can be found in the Saguenay Region (Quebec). To understand this phenomenon, a research project on the 17th-century founder effect that led to the formation of French Canadians' gene pool is being carried out. The focus of this study is on founders who contributed to the Saguenay gene pool and who are related to contemporary probands suffering from any one of five hereditary diseases: cystic fibrosis, tyrosinemia, hemochromatosis, Charlevoix-Saguenay spastic ataxia, and sensorimotor polyneuropathia with or without agenesis of the corpus callosum. A control group has been added for comparison purposes. Altogether, 545 ascending genealogies have been reconstructed, using the Interuniversity Institute for Population Research's RETRO database, leading to > 2,500 founders. The genetic contribution of each founder to each group has been measured. Results show that (1) nearly 80% of the individuals' gene pool come from founders who settled in Nouvelle-France in the 17th century, whatever the group; (2) 15% of the founders explain 90% of the total genetic contribution of the founders, but this pattern varies from one group to another; (3) there is no subgroup of founders more related to any given group of individuals.
Hutterite Brethren 囊性纤维化家族和染色体 7q RFLP 单倍型的谱系分析。
影响因子：
9.8
作者：
Fujiwara,TM;Morgan,K;Schwartz,RH;Doherty,RA;Miller,SR;Klinger,K;Stanislovitis,P;Stuart,N;Watkins,PC
通讯作者：
Watkins,PC