Lalouel J M, Le Mignon L, Simon M, Fauchet R, Bourel M, Rao D C, Morton N E
Laboratoire d'Anthropologie Biologique, Universite Paris, France.
Am J Hum Genet. 1985 Jul;37(4):700-18.
An ongoing family study of idiopathic hemochromatosis in Brittany, France, allowed us to investigate the segregation of this trait and its linkage and association to the HLA-A locus in 147 pedigrees, comprising 1,408 individuals with over 900 characterized for relevant biological parameters and typed for HLA. The joint consideration of affection status and serum iron concentration reveals no dominance effect on the latter trait and documents the increased information afforded by the consideration of a biological correlate of liability to affection for disease exhibiting incomplete penetrance. Our overall results are in general agreement with published results on a Utah family study.
在法国布列塔尼进行的一项关于特发性血色素沉着症的家族研究,使我们能够在147个家系中调查该性状的分离情况及其与HLA - A位点的连锁和关联。这些家系包括1408人,其中900多人有相关生物学参数特征并进行了HLA分型。对患病状况和血清铁浓度的联合分析表明,对后一性状不存在显性效应,并证明了对于表现出不完全外显率的疾病,考虑与易患性相关的生物学指标能提供更多信息。我们的总体结果与犹他州家族研究的已发表结果基本一致。