Rajalingam Raja, Krausa Peter, Shilling Heather G, Stein Jason B, Balamurugan Arumugam, McGinnis Malcolm D, Cheng Nathalie W, Mehra Narinder K, Parham Peter
Department of Structural Biology, Stanford University School of Medicine, Stanford, CA 94305-5126, USA.
Immunogenetics. 2002 Mar;53(12):1009-19. doi: 10.1007/s00251-001-0425-5. Epub 2002 Feb 6.
HLA and KIR are diverse and rapidly evolving gene complexes that work together in human immunity mediated by cytolytic lymphocytes. Understanding their complex immunogenetic interaction requires study of both HLA and KIR diversity in the same human population. Here a panel of 72 unrelated north Indian Hindus was analyzed. HLA- A, B, C, DRB1, DQA1, and DQB1 alleles and their frequencies were determined by sequencing or high-resolution typing of genomic DNA; KIR genotypes were determined by gene-specific typing and by allele-level DNA typing for KIR2DL1, 2DL3, 2DL5, 3DL1, and 3DL2. From HLA analysis, the north Indian population is seen to have several characteristics shared either with Caucasian or East Asian populations, consistent with the demographic history of north India, as well as specific features, including several alleles at high frequency that are rare or absent in other populations. A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.
HLA和KIR是多样且快速进化的基因复合体，它们在由细胞溶解性淋巴细胞介导的人类免疫中共同发挥作用。要理解它们复杂的免疫遗传相互作用，需要在同一人群中同时研究HLA和KIR的多样性。在此，对一组72名不相关的北印度印度教徒进行了分析。通过对基因组DNA进行测序或高分辨率分型来确定HLA - A、B、C、DRB1、DQA1和DQB1等位基因及其频率；通过基因特异性分型以及对KIR2DL1、2DL3、2DL5、3DL1和3DL2进行等位基因水平的DNA分型来确定KIR基因型。从HLA分析来看，北印度人群具有一些与高加索人群或东亚人群共有的特征，这与北印度的人口历史一致，同时也有一些特定特征，包括一些在其他人群中罕见或不存在的高频等位基因。北印度人群中大多数KIR基因谱在高加索人群和亚洲人群中未曾见过。最显著的是KIR单倍型B组的频率较高，导致北印度人中A组和B组单倍型的频率相等。北印度样本组的所有72名成员都具有不同的HLA基因型和不同的KIR基因型。
