Polymorphism and distribution of HLA-A,-B, and-DRB1 allele and haplotype at high resolution in the Guangxi Han population

PEI Yongfeng; HUANG Huini; LI Hengcong; CHEN Jierun; WU Guoguang

doi:10.13431/j.cnki.immunol.j.20170115

Abstract：This study designed to analyze the distribution feature of allelic and haplotypic polymorphisms of human leukocyte antigens at A,B and DRB1 loci in Guangxi Han population.A total of 1 644 unrelated Han ethnic individuals from Guangxi region were genotyped by polymerase chain reaction-sequence based typing (PCR-SBT) for HLA-A,-B,and-DRB1 loci.Allelic and haplotypic frequencies were estimated by maximum likelihood estimation method using Arlequin software 3.5.2.2,and this software was also used to estimate linkage disequilibrium (LD).Phylogeny tree was constructed using MEGA software 6.0,and compared with other Chinese Han populations.Furthermore,departures from Hardy-Weinberg expectations are observed for all three loci in this population.A total of 37 HLA-A,70 HLA-B,and 37 HLA-DRB1 alleles were detected in 1 644 samples.The most frequent alleles were A * 11∶01 (28.86％),B*46 ∶ 01 (14.26％) and D RB 1 * 15 ∶ 01 (13.32％).The most common three loci haplotype were A*33 ∶ 03-B*58 ∶ 01-DRB1*03∶01(6.12％);A*02 ∶ 07-B*46 ∶ 01,A*1 1 ∶ 01-DRB1 *15∶01 and B*58 ∶ 01-DRB1*03∶01 showed the strongest linkage disequilibrium.The phylogenetic tree analysis suggested that Guangxi Han population had a relative close genetic relationship with Guangxi Zhuang population and were genetically similar to southern Chinese populations.Taken together,we found that the HLA-A,-B,and-DRB1 loci are highly polymorphic in Guangxi Han population,which will be useful for estimating the probability of HLA matching in transplantation as well as for the study of the forensic medicine and anthropology in Chinese population.