Rabbani H, Pan Q, Kondo N, Smith C I, Hammarström L
Department of Bioscience at Novum, Karolinska Institute, S-141 57 Huddinge, Sweden.
Immunogenetics. 1996;45(2):136-41. doi: 10.1007/s002510050181.
A limited number of deletions and duplications within the human immunoglobulin heavy chain constant locus (IGHC) has previously been reported. We studied the IGHC locus in about 500 individuals representing three major races of human, Negroid (Gambian), Mongoloid (Japanese and Chinese), and Caucasoid (Iranian and Swedish). The haplotype frequency of duplications is highest in the Mongoloid population (22%), followed by the Caucasian (10%) and Negroid (5%) populations. The corresponding frequency of deletions are 2, 1.5, and 3.5%, respectively. New types of multiple duplications were found in this study on different genetic (H haplotype and racial) backgrounds. The most common duplication, found in all populations studied, encompasses the IGHA1-IGHE genes. The only deletion common to all racial groups is an isolated deletion of the IGHG4 gene. Our data are consistent with the hypothesis that the Caucasoid-Mongoloid group diverged from the hominoid ancestor after development of the Negroid populations, with subsequent evolution within the respective groups thereafter.
此前已有关于人类免疫球蛋白重链恒定区基因座（IGHC）内少量缺失和重复的报道。我们研究了约500名代表人类三大主要种族的个体的IGHC基因座，即黑人（冈比亚人）、蒙古人种（日本人和中国人）以及高加索人种（伊朗人和瑞典人）。重复的单倍型频率在蒙古人种群体中最高（22%），其次是高加索人种（10%）和黑人（5%）群体。相应的缺失频率分别为2%、1.5%和3.5%。在本研究中，在不同的遗传（H单倍型和种族）背景下发现了新型的多重重复。在所有研究群体中发现的最常见重复包含IGHA1 - IGHE基因。所有种族群体共有的唯一缺失是IGHG4基因的孤立缺失。我们的数据与以下假设一致：在黑人种群发展之后，高加索 - 蒙古人种群体从类人猿祖先分化出来，随后在各自群体内进行了后续进化。
