Daigneault J, Aubin G, Simard F, De Braekeleer M
Department of Human Sciences, Université du Quebec à Chicoutimi, Canada.
Clin Genet. 1991 Oct;40(4):298-303. doi: 10.1111/j.1399-0004.1991.tb03099.x.
Cystic fibrosis (CF) is an autosomal recessive disorder with a prevalence at birth estimated at 1/2000-1/2500 livebirths in Caucasian populations. Some 127 CF individuals are known in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of Quebec. The prevalence at birth was estimated at 1/902 live borns, and the carrier rate was estimated at 1/15 inhabitants in the SLSJ region. The mean inbreeding coefficient was only slightly elevated in the CF group compared with three control groups, and was due to remote consanguinity. The mean kinship coefficient was 2.4 times higher in the CF group than in the control groups. In SLSJ region, the places of origin of the CF individuals and their parents did not show a clustered nonuniform distribution. Endogamy was not higher in the CF group than in control groups.
囊性纤维化（CF）是一种常染色体隐性疾病，在白种人群中，其出生时的患病率估计为每2000 - 2500例活产中有1例。在魁北克一个地理上孤立的地区萨格奈 - 拉克 - 圣让（SLSJ），已知约有127例CF患者。据估计，该地区出生时的患病率为每902例活产中有1例，携带者比例估计为每15名居民中有1例。与三个对照组相比，CF组的平均近亲繁殖系数仅略有升高，且是由于远亲血缘关系所致。CF组的平均亲属系数比对照组高2.4倍。在SLSJ地区，CF患者及其父母的祖籍并未呈现出聚集性的非均匀分布。CF组的近亲通婚率并不高于对照组。
