CAJ | 학술논문

目的：发现并证实两例人类白细胞抗原（human leukocyte antigen，HLA）复合体 HLA-A/C座位间的基因重组。方法采集拟进行 HLA-I，II类 A，B和DRB1位点进行低分辨分型的两个家系共计12人的外周血标本，采用聚合酶链反应-序列特异寡核苷酸探针技术（PCR-SSO）和聚合酶链反应-序列特异性引物技术（PCR-SSP）进行 HLA低分辨分型，然后用基于测序的分型方法（SBT）进行高分辨基因分型，再根据结果进行遗传家系分析研究，确定 HLA基因重组相关位点。结果通过 HLA低、高分辨基因分型的结果进行家系分析，其中一个家系 A*30∶01/32∶01-C*06∶02间发生了重组，另一个家系是 A*11∶01/26∶01-C*07∶06间发生了重组，两个家系均是在染色单体减数分裂时 HLA-A和-C基因座位间发生了重组，均是父亲的2条染色单体间发生了交换，重组后产生的新的单倍型又完整的遗传给了下一代。结论发现并证实两例中国汉族人群 HLA-A/C基因座位间的基因重组家系，为更深入研究 HLA重组机制奠定了坚实的基础。
목적：발현병증실량례인류백세포항원（human leukocyte antigen，HLA）복합체 HLA-A/C좌위간적기인중조。방법채집의진행 HLA-I，II류 A，B화DRB1위점진행저분변분형적량개가계공계12인적외주혈표본，채용취합매련반응-서렬특이과핵감산탐침기술（PCR-SSO）화취합매련반응-서렬특이성인물기술（PCR-SSP）진행 HLA저분변분형，연후용기우측서적분형방법（SBT）진행고분변기인분형，재근거결과진행유전가계분석연구，학정 HLA기인중조상관위점。결과통과 HLA저、고분변기인분형적결과진행가계분석，기중일개가계 A*30∶01/32∶01-C*06∶02간발생료중조，령일개가계시 A*11∶01/26∶01-C*07∶06간발생료중조，량개가계균시재염색단체감수분렬시 HLA-A화-C기인좌위간발생료중조，균시부친적2조염색단체간발생료교환，중조후산생적신적단배형우완정적유전급료하일대。결론발현병증실량례중국한족인군 HLA-A/C기인좌위간적기인중조가계，위경심입연구 HLA중조궤제전정료견실적기출。
Objective To investigate the recombination events occurring between HLA-A and-C loci discovered in two Chi-nese families.Methods HLA class I (HLA-A and-B)and II (HLA-DRB1)alleles low resolution typing were typed by pol-ymerase chain reaction-sequence specific oligonucleotide,(PCR-SSO)and PCR-sequence specific primer (PCR-SSP).HLA class I and II high resolution typing was done by sequencing-based typing (SBT).Then the recombination sites were ana-lyzed by family study.Results The results indicates that the recombination events occurred in one family between A*30∶01/32∶01-C*06∶02 and another family between A*11∶01/26∶01-C*07∶06 during meiosis.The recombination both came from fathers and resulted in new HLA haplotypes that were inherited by the children.Conclusion Two HLA-A/C re-combination events occurring between HLA-A and-C loci have been found in two Chinese families,which help further study the mechanisms of HLA recombination.