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目的分析西北地区汉族群体HLAA、B和DRB1基因座等位基因频率和HLAAB、BDRB1和ABDRB1单倍型,获得单倍型频率数据。方法采用序列特异性寡核苷酸探针反向斑点杂交技术对西北地区62个家系和101个无关个体HLAA、B和DRB1基因座进行基因分型,分析HLA单倍型。结果在西北地区汉族人群中检出15个HLAA等位基因,28个HLAB等位基因,13个HLADRB1等位基因,A02、A11、A24、B13、B15、B40、DRB104、DRB107、DRB109和DRB115基因频率较高(>10%),A02(0.3244)、B13(0.1200)和DRB115(0.1400)等位基因频率最高。分析得出HLAAB、BDRB1、ABDRB1单倍型分别有122、147和278种,83种ABDRB1单倍型有至少两条以上相同的单倍型,占总单倍型数的18.44%(83/450)。A30B13DRB107、A02B46DRB109、A01B37DRB110、A24B15DRB15、A02B46DRB108、A33B58DRB103是最常见的单倍型。结论西北地区汉族群体HLA单倍型多态性较为丰富,等位基因频率和单倍型频率数据可用于骨髓移植供者的选择、法医学亲权鉴定以及人类学研究。
OBJECTIVE: To analyze the allele frequencies of HLAA, B and DRB1 loci and the haplotypes of HLA-B, BDRB1 and ABDRB1 in Han population of Northwest China to obtain haplotype frequency data. Methods HLA-B haplotypes were genotyped by sequence-specific oligodeoxynucleotide reverse hybridization to HLA-B, HLA-B and DRB1 genotypes in 62 pedigrees and 101 unrelated individuals in Northwest China. Results Fifteen HLAA alleles, 28 HLAB alleles, 13 HLADRB1 alleles, A02, A11, A24, B13, B15, B40, DRB104, DRB107, DRB109 and DRB115 genes were detected in Han population of Northwest China The frequencies of A02 (0.3244), B13 (0.1200) and DRB115 (0.1400) were the highest frequencies (> 10%). The results showed that there were 122, 147 and 278 haplotypes in HLA-B, BDRB1 and ABDRB1, respectively. There were at least two identical haplotypes in 83 ABDRB1 haplotypes, accounting for 18.44% of total haplotypes (83/450 ). A30B13DRB107, A02B46DRB109, A01B37DRB110, A24B15DRB15, A02B46DRB108, A33B58DRB103 are the most common haplotypes. Conclusion HLA haplotype polymorphism is more abundant in Han population in northwest China. The allele frequency and haplotype frequency data can be used in the selection of donor for bone marrow transplantation, forensic paternity test and anthropological study.