RESUMEN
Alleles of the C*07:01/07:06/07:18 group is distinguished by polymorphisms in exons 5-6. In a previous study, we focused on exons 2-3 of the gene and showed that 6.8% of Koreans express alleles in this group. In this study, we identified allelic and haplotypic diversities of the C*07:01/07:06/07:18 group in Koreans. Among 118 C*07:01/07:06/07:18-positive, unrelated, healthy samples, 96.6% were C*07:06 and 3.4% were C*07:01. Each allele was exclusively associated with a specific set of other alleles consisting of the conserved haplotypes A*01:01-C*07:01-B*08:01-DRB1*03:01-DQB1*02:01 (100%) and A*33:03-C*07:06-B*44:03-DRB1*07:01-DQB1*02:02 (95.6%), respectively. None carried C*07:18. With the continuous discovery of novel alleles, periodic updates with testing for newer alleles will be useful to support related research and clinical settings in each population.
Asunto(s)
Alelos , Etnicidad , Antígenos HLA-C/genética , Haplotipos/genética , Frecuencia de los Genes , Técnicas de Genotipaje , Prueba de Histocompatibilidad/tendencias , Humanos , Corea (Geográfico) , Reacción en Cadena de la Polimerasa , Polimorfismo GenéticoRESUMEN
Polymorphisms outside exon 2 of the DRB1 coding region exhibit increased ambiguities in allele assignments in typing laboratories analyzing the exon 2 sequence alone. This study investigated the frequencies of alleles in DRB1*120101/1206/1210 and DRB1*140101/1454 groups by DNA sequencing of exons 1 and/or 3 and examined their associations with class II alleles at adjacent loci in Koreans. Of 103 individuals, 97 were DRB1*120101 and 6 were DRB1*1210. None carried DRB1*1206, an allele initially characterized from a Korean individual. Association of DRB1*120101 with various DRB3, DQA1, and DQB1 alleles was reflected in 11 different four-locus haplotypes. In contrast, DRB1*1210 was exclusively associated with DRB3*020201, DQA1*0505, and DQB1*0301. All 97 DRB1*140101/1454 samples were DRB1*1454. DRB1*1454 was strongly associated with DRB3*020201, DQA1*010401, and two different DQB1 alleles (*0502, *0503). Continuous updating of HLA high-resolution typing information will be useful in the development of typing and matching strategies for hematopoietic stem cell transplantation.