Glas J, Werner A I, Brünnler G, Witter K, Scholz S, Weiss E H, Albert E D
Institut für Anthropologie und Humangenetik, LMU München, Pettenkoferstrasse 8a, 80336 Munich, Germany.
Tissue Antigens. 2001 Dec;58(6):411-8. doi: 10.1034/j.1399-0039.2001.580611.x.
The polymorphisms of MICA exon 5 (5 alleles), MICB intron 1 (13 alleles), C1_4_1 (6 alleles), HLA-B (29 alleles) and HLA-A (15 alleles) were investigated in a healthy German population. Sequencing was performed for the MICB alleles CA14, CA15, CA17, CA23 and CA26 isolated from different cell lines. Variation to the published sequence was observed for CA14, CA15 and for CA17. At the C1_4_1 locus a new allele (CAAA)9 was identified and confirmed by sequencing. Linkage disequilibria were investigated for two-point- and three-point-haplotypes. Although the average relative delta value correlates loosely with the physical distance from HLA-B to MICB: HLA-B-C1_4_1>HLA-B-MICA>HLA-B-MICB, there are several exceptions to this rule. Analyzing three-point-haplotypes for the segment MICB to HLA-A a wide variation of linkage disequilibria for some of the classical HLA-A, B haplotypes has been observed. While the HLA-A1, B8 haplotype displays strong relative delta values over the entire distance from HLA-A to MICB, other haplotypes have linkage disequilibria only in a limited region.
在一个健康的德国人群中研究了MICA外显子5（5个等位基因）、MICB内含子1（13个等位基因）、C1_4_1（6个等位基因）、HLA - B（29个等位基因）和HLA - A（15个等位基因）的多态性。对从不同细胞系分离出的MICB等位基因CA14、CA15、CA17、CA23和CA26进行了测序。观察到CA14、CA15和CA17与已发表序列存在差异。在C1_4_1位点鉴定出一个新等位基因（CAAA）9并通过测序得以确认。研究了两点和三点单倍型的连锁不平衡情况。尽管平均相对δ值与从HLA - B到MICB的物理距离大致相关：HLA - B - C1_4_1>HLA - B - MICA>HLA - B - MICB，但该规则存在一些例外情况。分析从MICB到HLA - A片段的三点单倍型时，观察到一些经典的HLA - A、B单倍型的连锁不平衡存在很大差异。虽然HLA - A1、B8单倍型在从HLA - A到MICB的整个距离上显示出较强的相对δ值，但其他单倍型仅在有限区域存在连锁不平衡。
