de Braekeleer M, Vigneault A, Simard H
Département des Sciences Humaines, Université du Québec à Chicoutimi, Canada.
Ann Genet. 1992;35(4):202-7.
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that has a high prevalence in Caucasian populations. Based on HLA typing in 18 families, the gene frequency was estimated 0.12. The homozygote frequency was 0.014 and the heterozygote frequency was 0.21 in Saguenay Lac-Saint-Jean (SLSJ), a geographically isolated region of northeastern Quebec. The genealogical reconstruction showed that 15 of the 57 obligate carriers of the HH gene could be traced back to a unique ancestor in the 18th century. The mean coefficients of inbreeding and kinship were 17 and 15 times, respectively, higher in the HH group than in three control groups. The values of both coefficients were much higher than those found in other HH populations and in most of the other recessive disorders prevalent in SLSJ.
遗传性血色素沉着症（HH）是一种常染色体隐性疾病，在白种人群中具有较高的发病率。基于对18个家庭的HLA分型，估计基因频率为0.12。在魁北克东北部地理上孤立的萨格奈-圣让湖地区（SLSJ），纯合子频率为0.014，杂合子频率为0.21。系谱重建显示，HH基因的57名必然携带者中有15名可追溯到18世纪的一位独特祖先。HH组的平均近亲繁殖系数和亲属系数分别比三个对照组高17倍和15倍。这两个系数的值远高于在其他HH人群以及SLSJ中流行的大多数其他隐性疾病中发现的值。
