Whang Dong Hee, Park Hyejin, Yoon Jung Ah, Park Myoung Hee
Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
Hum Immunol. 2005 Feb;66(2):146-54. doi: 10.1016/j.humimm.2004.10.013.
Killer cell immunoglobulin-like receptor (KIR) genes constitute a multigene family whose genomic diversity is achieved through variation in gene content and allelic polymorphism within individual KIR genes. To date, 16 KIR genes and pseudogenes have been identified, and group A and group B haplotypes are characterized by a dominance of genes encoding inhibitory and activating receptors, respectively. In the present study, we have investigated the presence or absence of 16 KIR genes and pseudogenes and subtypes of four genes (3DP1, 3DP1 variant; 2DL1, 2DL1 variant; expressed and nonexpressed variant of 2DL5; full length and deleted form of 2DS4) in 352 members of 77 unrelated Korean families using a PCR-based sequence-specific priming method. KIR haplotypes were determined by segregation analysis. A total of 29 different KIR genotypes and 19 (two group A and 17 group B) haplotypes were identified in 154 parents. The distribution of genotypes, in terms of combination of haplotypes, was AA 55.2%, AB 36.4%, and BB 8.4%. Different from Caucasians, full-length 2DS4 (80.5%) was the predominant subtype of 2DS4 and group A (73.4%) outnumbered group B haplotypes (26.6%). The KIR gene frequencies and the predominance of A haplotypes in Koreans are similar to those in the Japanese.
杀伤细胞免疫球蛋白样受体（KIR）基因构成一个多基因家族，其基因组多样性是通过基因含量的变化以及单个KIR基因内的等位基因多态性实现的。迄今为止，已鉴定出16个KIR基因和假基因，A组和B组单倍型分别以编码抑制性受体和激活性受体的基因占优势为特征。在本研究中，我们使用基于PCR的序列特异性引物方法，调查了77个无亲缘关系的韩国家庭的352名成员中16个KIR基因和假基因以及四个基因的亚型（3DP1、3DP1变体；2DL1、2DL1变体；2DL5的表达型和非表达型变体；2DS4的全长型和缺失型）的有无情况。通过分离分析确定KIR单倍型。在154名父母中总共鉴定出29种不同的KIR基因型和19种（2种A组和17种B组）单倍型。就单倍型组合而言，基因型的分布为AA占55.2%，AB占36.4%，BB占8.4%。与高加索人不同，全长2DS4（80.5%）是2DS4的主要亚型，A组单倍型（73.4%）的数量超过B组单倍型（26.6%）。韩国人的KIR基因频率和A组单倍型的优势与日本人相似。
