人类白细胞抗原HLA-A/C和HLA-B/DRB1座位基因重组分析

Analysis of gene recombination between human leukocyte antigen-A /C loci and between human leukocyte antigen-B /DRB1 loci

目的探讨2个汉族家系人类白细胞抗原(human leukocyte antigen,HLA)-A/C和B/DRB1座位的重组情况。方法采集2个家系成员外周血标本抽提基因组DNA,应用聚合酶链反应-序列特异寡核苷酸探针技术(PCR-SSO)和聚合酶链反应-测序分型方法(PCR-SBT)检测HLA-A,-C,-B,-DRB1,-DQB1座位,家系遗传分析确定个体HLA单体型,通过检测短串联重复序列位点确定家系成员亲权关系。结果家系1:HLA单体型重组发生在HLA-A/C座位间,家系调查显示为母源HLA单体型交换后遗传给子代;家系2:HLA单体型重组发生在HLA-B/DRB1座位间,家系调查显示为父源HLA单体型发生交换后遗传给子代。短串联重复序列结果证实2个家系成员内具有高度的亲权关系。结论发现HLA-A/C和HLA-B/DRB1座位重组家系各1例,为深入研究HLA重组机制提供了基础。

Objective To explore the recombination events between human leukocyte antigen （HLA） - A/C loci, HLA - B/ DRB1 loci in two Chinese Han families. Methods Peripheral blood specimens were collected from ttle members of the two fam- ilies for genomic DNA extraction. The HLA - A, - C, - B, - DRB1 and - DQB1 loci were detected by polymerase chain reac- tion- sequence specific oligonucleotide （PCR- SSO） and polymerase chain reaction sequencing- based typing（ PCR -SBT）. HLA haplotypes of the individuals were identified by family genetic analysis. The parentage possibility was assessed by short tandem repeat technique. Results Recombination was found between the HLA -A/C loci in one family and one individual in- herited a paternal haplotype due to a recombination event between the mother＇s HLA -A/C loci on her chromosomes. Recombi- nation was found between the HLA - B/DRB1 loci in the other family and one individual inherited a paternal haplotype resuhing from a recombination event between the father＇s HLA -B/DRB1 loci on his chromosomes. The high parentage possibilities a- mong the members of the two families were confirmed by short tandem repeat technique respectively. Conclusion Recombina- tion events were identified in one individual between HLA - A/C and one individual between I-ILA - B/DRB1 loci, providing ba- sis for further study of HLA recombination mechanism.