现代检验医学杂志
現代檢驗醫學雜誌
현대검험의학잡지
JOURNAL OF MODERN LABORATORY MEDICINE
2014年
5期
107-108,111
,共3页
王中梅%刘娜%龚治尹%王丽君%李伟%单小燕
王中梅%劉娜%龔治尹%王麗君%李偉%單小燕
왕중매%류나%공치윤%왕려군%리위%단소연
人类白细胞抗原%基因重组%H LA-A/C位点
人類白細胞抗原%基因重組%H LA-A/C位點
인류백세포항원%기인중조%H LA-A/C위점
HLA antigens%gene recombination%HLA-A/C loci
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。
目的:髮現併證實兩例人類白細胞抗原(human leukocyte antigen,HLA)複閤體 HLA-A/C座位間的基因重組。方法採集擬進行 HLA-I,II類 A,B和DRB1位點進行低分辨分型的兩箇傢繫共計12人的外週血標本,採用聚閤酶鏈反應-序列特異寡覈苷痠探針技術(PCR-SSO)和聚閤酶鏈反應-序列特異性引物技術(PCR-SSP)進行 HLA低分辨分型,然後用基于測序的分型方法(SBT)進行高分辨基因分型,再根據結果進行遺傳傢繫分析研究,確定 HLA基因重組相關位點。結果通過 HLA低、高分辨基因分型的結果進行傢繫分析,其中一箇傢繫 A*30∶01/32∶01-C*06∶02間髮生瞭重組,另一箇傢繫是 A*11∶01/26∶01-C*07∶06間髮生瞭重組,兩箇傢繫均是在染色單體減數分裂時 HLA-A和-C基因座位間髮生瞭重組,均是父親的2條染色單體間髮生瞭交換,重組後產生的新的單倍型又完整的遺傳給瞭下一代。結論髮現併證實兩例中國漢族人群 HLA-A/C基因座位間的基因重組傢繫,為更深入研究 HLA重組機製奠定瞭堅實的基礎。
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.