De Braekeleer M
Université du Québec à Chicoutimi, Québec, Canada.
Ann Hum Biol. 1995 Mar-Apr;22(2):111-22. doi: 10.1080/03014469500003772.
We analysed the geographic distribution of 770 patients and 1084 obligate carriers of 18 autosomal recessive disorders that have a high incidence in Saguenay-Lac-Saint-Jean (SLSJ) (Quebec). The places of birth of the patients and the obligate carriers were found to be unevenly distributed in SLSJ. A statistically significant higher number of places of birth than expected (p < or = 0.05) was observed in Saguenay and Lac-Saint-Jean (LSJ) East, where the immigration was mainly the fact of individuals coming from Charlevoix. A significantly lower number of places of birth than expected was found in LSJ West, and in some municipalities in which the immigration and the contribution of the ancestors from Charlevoix was low. The geographic distribution of inbreeding and kinship only partially explained the geographic distribution of the disorders. The individuals who had both parents and all four grandparents born in SLSJ were at a higher risk of having a recessive disorder. While the genes of these disorders are still being introduced in SLSJ, they are also being dispersed in other regions and outside Quebec by emigrants from SLSJ.
我们分析了魁北克萨格奈-圣让湖地区（SLSJ）发病率较高的18种常染色体隐性疾病的770例患者和1084例 obligate carriers的地理分布情况。结果发现，患者和 obligate carriers的出生地在SLSJ地区分布不均。在萨格奈和圣让湖东部（LSJ）观察到出生地数量在统计学上显著高于预期（p≤0.05），该地区的移民主要是来自沙勒沃伊的个人。在LSJ西部以及一些移民和来自沙勒沃伊的祖先贡献较低的城市，发现出生地数量显著低于预期。近亲繁殖和亲属关系的地理分布仅部分解释了这些疾病的地理分布。父母和四位祖父母均出生在SLSJ的个体患隐性疾病的风险更高。虽然这些疾病的基因仍在SLSJ地区传入，但它们也正通过SLSJ的移民分散到其他地区和魁北克以外的地方。
