CAJ | 학술논문

目的从高分辨率水平研究中国北方汉族人群人类白细胞抗原(Human Leukocyte Antigens,HLA)-A、B、DRB1基因和单倍型的多态性.方法采用聚合酶链反应-测序分型方法(Polymerase Chain Reaction-Sequence Based Typing,PCR-SBT)对631名随机北方汉族个体的HLA-A、B、DRB1基冈进行序列分析,进而采用最大似然性方法计算等位基因和单倍型的分布频率.结果 30个HLA-A等位基因中,频率高于0.05的5种常见等位基因A*1101、A*2402、A*0207、A*0201和A*3303的频率总和为69.26%;64个HLA-B等位基因中,频率高于0.05的4种常见等位基因B*4001、B*4601、B*5801和B*1502的频率总和为38.11%,41个DRB1等位基因中,频率高于0.05的7种常见等位基因DRB1*0901、DRB1*1501、DRB1*1202、DRB1*0701、DRB1*0803、DRB1*1101和DRB1*0405的频率总和为59.98%.499条A-B、659条BDRB1和2 426条A-B-DRB1单倍型中,分别有38、39和31条单倍型频率高于0.005,其频率总和分别为59.82%、53.69%和32.38%,A*0207-B*4601、B*4601-DRB1*0901和A*0207-B*4601-DRB1*0901分别为其最主要单倍型.结论中国北方汉族人群高分辨水平的HLA-A、B、DRB1等位基因和单倍型的多态性数据可作为人类学、法医学、移植配型和疾病相关性研究和应用的参考数据.
목적 종고분변솔수평연구중국북방한족인군인류백세포항원(Human Leukocyte Antigens,HLA)-A、B、DRB1기인화단배형적다태성.방법 채용취합매련반응-측서분형방법(Polymerase Chain Reaction-Sequence Based Typing,PCR-SBT)대631명수궤북방한족개체적HLA-A、B、DRB1기강진행서렬분석,진이채용최대사연성방법계산등위기인화단배형적분포빈솔.결과 30개HLA-A등위기인중,빈솔고우0.05적5충상견등위기인A*1101、A*2402、A*0207、A*0201화A*3303적빈솔총화위69.26%;64개HLA-B등위기인중,빈솔고우0.05적4충상견등위기인B*4001、B*4601、B*5801화B*1502적빈솔총화위38.11%,41개DRB1등위기인중,빈솔고우0.05적7충상견등위기인DRB1*0901、DRB1*1501、DRB1*1202、DRB1*0701、DRB1*0803、DRB1*1101화DRB1*0405적빈솔총화위59.98%.499조A-B、659조BDRB1화2 426조A-B-DRB1단배형중,분별유38、39화31조단배형빈솔고우0.005,기빈솔총화분별위59.82%、53.69%화32.38%,A*0207-B*4601、B*4601-DRB1*0901화A*0207-B*4601-DRB1*0901분별위기최주요단배형.결론 중국북방한족인군고분변수평적HLA-A、B、DRB1등위기인화단배형적다태성수거가작위인류학、법의학、이식배형화질병상관성연구화응용적삼고수거.
Objective To study the polymorphisms of human leukocyte antigen (HLA)-A, B and DRB1 genes and haplotypes at high-resolution level in Northern Chinese Han population. Methods 631 randomly selected Northern Chinese Han individuals were genotyped by polymerase chain reaction-sequence based typing (PCR-SBT) method for their HLA-A, B and DRB1 genes, and then the frequencies of alleles and haplotypes were estimated by maximum-likehood estimation method. Results Thirty HLA-A alleles were observed and five common alleles with frequencies higher than 0.05 which included A * 1101, A * 2402, A* 0207, A * 0201 and A * 3303 accounted for 69.26% of the total for HLA-A locus. Sixty-four alleles were seen at HLA-B locus, and B* 4001,B* 4601,B* 5801 and B* 1502 were the most frequent with frequencies higher than 0.05 which comprised 38.11% of the total. Among the forty-one HLA-DRB1 alleles, seven alleles with frequencies higher than 0.05 included DRB1 * 0901, DRB1 * 1501, DRB1 * 1202,DRB1 * 0701, DRB1 * 0803, DRB1 * 1101 and DRB1 * 0405, which accounted for 59.98% of the total. 499 A-B, 659 B-DRB1 and 2 426 A-B-DRB1 haplotype were,observed,respectively. 38 A-B, 39 B-DRB1 and 31 A-B-DRB1 haplotypes showed frequencies higher than 0.005 which comprised 59.82%,53.69% and 32.38% of the total. The most frequent haplotype was A * 0207-B * 4601, B * 4601-DRB1 * 0901 and A * 0207-B* 4601-DRB1 * 0901 for each type. Conclusion The presented allelic frequencies and haplotype diversities at high-resolution level in Northern Chinese Han population could be served as reference standard for the anthropology, legal medicine, transplantation matching and disease association studies.