Lefranc M P, Lefranc G
FEBS Lett. 1987 Mar 23;213(2):231-7. doi: 10.1016/0014-5793(87)81496-5.
Extensive multigene deletions have been described in the human immunoglobulin heavy-chain constant region genes, some of them encompassing perhaps more than 100 kilobases. These deletions have all been observed in healthy individuals although these individuals lacked several immunoglobulin class or subclasses, being either homozygous for one deletion or heterozygous for two different deletions. The high frequency of consanguinity in the Tunisian population accounts for the high frequency of individuals displaying one or the other of these deletions in a homozygous state.
在人类免疫球蛋白重链恒定区基因中已发现广泛的多基因缺失,其中一些缺失可能涵盖超过100千碱基对。这些缺失在健康个体中均有观察到,尽管这些个体缺乏几种免疫球蛋白类别或亚类,要么是某一缺失的纯合子,要么是两种不同缺失的杂合子。突尼斯人群中近亲结婚的高频率导致了在纯合状态下出现一种或另一种此类缺失的个体的高频率。