Madore Anne-Marie, Prévost Claude, Dorfman Ruslan, Taylor Chelsea, Durie Peter, Zielenski Julian, Laprise Catherine
Université Laval, Québec, Canada.
Genet Med. 2008 Mar;10(3):201-6. doi: 10.1097/GIM.0b013e318164cb1c.
Saguenay-Lac-Saint-Jean is a region located in the northeastern part of the Province of Quebec, Canada, and is characterized by a founder effect. In this region, it has been documented that the incidence of cystic fibrosis reached 1/902 live births between 1975 and 1988, three times higher than the average incidence of 1/2500 live births reported in other Caucasian populations. This corresponds to a carrier rate of 1/15.
Using genotyping data from the Canadian Consortium for Cystic Fibrosis Genetic Studies, this article describes the cystic fibrosis transmembrane conductance regulator profile of the cystic fibrosis population living in the Saguenay-Lac-Saint-Jean region and compares it with cystic fibrosis populations living in three other regions of the Province of Quebec.
Significant differences in allelic frequencies of common mutations (as DeltaF508, 621 + 1G>T and A455E), and in percentage of covered allele with three or six mutations, were found in Saguenay-Lac-Saint-Jean compared to other regions. Based on this result, two mutation panels exceeding 90% sensitivity threshold are now proposed for cystic fibrosis carrier screening in this region.
The implementation of the proposed carrier screening program could diminish the incidence of this disease in this region and allow future parents to make informed decisions about family planning.
萨格奈-圣让湖地区位于加拿大魁北克省东北部，具有奠基者效应。在该地区，有文献记载1975年至1988年间囊性纤维化的发病率达到1/902活产儿，是其他白种人群报告的平均发病率1/2500活产儿的三倍。这相当于携带者频率为1/15。
本文利用加拿大囊性纤维化遗传研究联盟的基因分型数据，描述了居住在萨格奈-圣让湖地区的囊性纤维化人群的囊性纤维化跨膜传导调节因子概况，并将其与居住在魁北克省其他三个地区的囊性纤维化人群进行比较。
与其他地区相比，萨格奈-圣让湖地区在常见突变（如ΔF508、621 + 1G>T和A455E）的等位基因频率以及具有三个或六个突变的覆盖等位基因百分比方面存在显著差异。基于这一结果，现提出两个超过90%敏感性阈值的突变检测板用于该地区的囊性纤维化携带者筛查。
实施拟议的携带者筛查计划可降低该地区这种疾病的发病率，并使准父母能够在计划生育方面做出明智的决定。
