Pearce W G, Gillan J G, Brosseau L
Can J Ophthalmol. 1984 Apr;19(3):115-8.
Autosomal recessive inheritance of various conditions is well documented among inbreeding groups. In northern Canada inbreeding occurs in communities as a result of language and cultural uniqueness as well as geographic isolation. In one such community--Rae, in the Northwest Territories--two autosomal recessive disorders, the Bardet-Biedl syndrome and retinitis punctata albescens, are segregating. This report outlines the major clinical features of the disorders, establishes for both conditions the high frequency of the heterozygous carrier genotype in the community and suggests a possible way to reduce the likelihood of increased numbers of affected individuals in forthcoming generations.
多种疾病的常染色体隐性遗传现象在近亲繁殖群体中已有充分记录。在加拿大北部，由于语言和文化的独特性以及地理隔离，近亲繁殖在一些社区中时有发生。在一个这样的社区——西北地区的雷——两种常染色体隐性疾病，即巴德-比埃尔综合征和白点状视网膜变性，正在进行基因分离。本报告概述了这些疾病的主要临床特征，确定了这两种疾病在该社区中杂合子携带者基因型的高频率，并提出了一种可能的方法，以降低后代中受影响个体数量增加的可能性。
