Dawson D V, Ober C, Kostyu D D
Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106-4945, USA.
Genet Epidemiol. 1995;12(1):47-62. doi: 10.1002/gepi.1370120106.
HLA-A, -B, -C, -DR, and -DQ typings of the Schmiedeleut Hutterites of South Dakota were collected as part of an ongoing genetic-epidemiologic study of HLA and fertility. A total of 1,082 individuals, including 852 married adults representative of the reproductive population of this isolate, were characterized for five-locus HLA haplotypes. HLA-A1, A2, A3, and A24 accounted for 75% of observed HLA-A alleles and HLA-B27, B35, B51, and B62 accounted for 55% of observed HLA-B alleles. S-leut Hutterites are derived from 68 or fewer ancestors. However, only 48 ancestral HLA haplotypes were observed and nine of these accounted for over 52% of the observed haplotypes. Measures of two-locus linkage disequilibrium derived from these haplotypes indicated that one-third to half of the observed HLA-A/B, B/DR, and A/DR allele combinations exhibited highly statistically significant linkage disequilibrium. Allele and haplotype frequencies did not differ between males and females. Recombination rates of 0.004% and 0.005% between HLA-A and -C and between HLA-B and -DR, respectively, were observed. This HLA profile points out a paucity of HLA alleles and haplotypes in this population and marked linkage disequilibrium among the HLA alleles that are present.
作为一项正在进行的关于HLA与生育的遗传流行病学研究的一部分，收集了南达科他州施米德莱特胡特尔特人的HLA - A、- B、- C、- DR和 - DQ分型。总共1082人，包括852名已婚成年人，他们代表了这个隔离群体的生殖人群，对其进行了五基因座HLA单倍型分析。HLA - A1、A2、A3和A24占观察到的HLA - A等位基因的75%，HLA - B27、B35、B51和B62占观察到的HLA - B等位基因的55%。施米德莱特胡特尔特人源自68个或更少的祖先。然而，仅观察到48种祖先HLA单倍型，其中9种占观察到的单倍型的52%以上。从这些单倍型得出的两位点连锁不平衡测量表明，观察到的HLA - A/B、B/DR和A/DR等位基因组合中有三分之一到一半表现出高度统计学显著的连锁不平衡。等位基因和单倍型频率在男性和女性之间没有差异。分别观察到HLA - A与 - C之间以及HLA - B与 - DR之间的重组率为0.004%和0.005%。这种HLA谱表明该人群中HLA等位基因和单倍型较少，并且所存在的HLA等位基因之间存在明显的连锁不平衡。
