Haplotype analysis of killer cell immunoglobulin-like receptor genes in 77 Korean families

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.