中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
2期
216-218
,共3页
刘娜%单小燕%李伟%王丽君%何晓枚%王东梅%倪蕾%崔爽%王琳%龚治尹%赵波涛%张志欣
劉娜%單小燕%李偉%王麗君%何曉枚%王東梅%倪蕾%崔爽%王琳%龔治尹%趙波濤%張誌訢
류나%단소연%리위%왕려군%하효매%왕동매%예뢰%최상%왕림%공치윤%조파도%장지흔
人类白细胞抗原%HLA-B/DR座位%基因重组
人類白細胞抗原%HLA-B/DR座位%基因重組
인류백세포항원%HLA-B/DR좌위%기인중조
human leucocyte antigen%HLA-B/DR loci%gene recombination
目的 了解一家系人类白细胞抗原(human leucocyte antigen,HLA)复合体HLA-B/DR座位间的基因重组.方法 采集拟进行造血干细胞移植的1例急性淋巴细胞白血病患者(男,16岁)及其父母和3个姐姐的外周血标本,首先对其HLA Ⅰ、Ⅱ类A、B、DRB13个位点采用聚合酶链反应-序列特异寡核苷酸探针技术(polymerase chain reaction-sequence specific oligonucleotide,PCR-SSO)和聚合酶链反应-序列特异性引物技术(polymerase chain reaction sequence specific primer,PCR-SSP)进行低分辨基因分型,然后用基于测序的分型方法(sequencing-based typing,SBT)进行高分辨基因分型,再进行遗传家系分析研究,确定HLA基因重组相关位点.结果 HLA高分辨基因分型的结果证实患者的2条单倍型分别为A*3101-B*1301-DRB1*0701和A*3303-B*4403-DRB1*1302;其父亲的2条单倍型为A*3001-B*1302-DRB1*0701和A*3101-B*1301-DRB1*1501.从遗传家系分析显示,患者所携有的父源A*3101-B*1301单倍体是源自父亲的1条染色单体,而DRB1*0701则源自父亲的另1条染色单体,这表明父亲的2条染色单体在减数分裂时HLA-B和-DRB1基因座位间发生了交换,重组后的单倍型又完整地遗传给了患者.结论 发现了1个中国汉族人群HLA-B/DR基因座位间的基因重组家系.
目的 瞭解一傢繫人類白細胞抗原(human leucocyte antigen,HLA)複閤體HLA-B/DR座位間的基因重組.方法 採集擬進行造血榦細胞移植的1例急性淋巴細胞白血病患者(男,16歲)及其父母和3箇姐姐的外週血標本,首先對其HLA Ⅰ、Ⅱ類A、B、DRB13箇位點採用聚閤酶鏈反應-序列特異寡覈苷痠探針技術(polymerase chain reaction-sequence specific oligonucleotide,PCR-SSO)和聚閤酶鏈反應-序列特異性引物技術(polymerase chain reaction sequence specific primer,PCR-SSP)進行低分辨基因分型,然後用基于測序的分型方法(sequencing-based typing,SBT)進行高分辨基因分型,再進行遺傳傢繫分析研究,確定HLA基因重組相關位點.結果 HLA高分辨基因分型的結果證實患者的2條單倍型分彆為A*3101-B*1301-DRB1*0701和A*3303-B*4403-DRB1*1302;其父親的2條單倍型為A*3001-B*1302-DRB1*0701和A*3101-B*1301-DRB1*1501.從遺傳傢繫分析顯示,患者所攜有的父源A*3101-B*1301單倍體是源自父親的1條染色單體,而DRB1*0701則源自父親的另1條染色單體,這錶明父親的2條染色單體在減數分裂時HLA-B和-DRB1基因座位間髮生瞭交換,重組後的單倍型又完整地遺傳給瞭患者.結論 髮現瞭1箇中國漢族人群HLA-B/DR基因座位間的基因重組傢繫.
목적 료해일가계인류백세포항원(human leucocyte antigen,HLA)복합체HLA-B/DR좌위간적기인중조.방법 채집의진행조혈간세포이식적1례급성림파세포백혈병환자(남,16세)급기부모화3개저저적외주혈표본,수선대기HLA Ⅰ、Ⅱ류A、B、DRB13개위점채용취합매련반응-서렬특이과핵감산탐침기술(polymerase chain reaction-sequence specific oligonucleotide,PCR-SSO)화취합매련반응-서렬특이성인물기술(polymerase chain reaction sequence specific primer,PCR-SSP)진행저분변기인분형,연후용기우측서적분형방법(sequencing-based typing,SBT)진행고분변기인분형,재진행유전가계분석연구,학정HLA기인중조상관위점.결과 HLA고분변기인분형적결과증실환자적2조단배형분별위A*3101-B*1301-DRB1*0701화A*3303-B*4403-DRB1*1302;기부친적2조단배형위A*3001-B*1302-DRB1*0701화A*3101-B*1301-DRB1*1501.종유전가계분석현시,환자소휴유적부원A*3101-B*1301단배체시원자부친적1조염색단체,이DRB1*0701칙원자부친적령1조염색단체,저표명부친적2조염색단체재감수분렬시HLA-B화-DRB1기인좌위간발생료교환,중조후적단배형우완정지유전급료환자.결론 발현료1개중국한족인군HLA-B/DR기인좌위간적기인중조가계.
Objective To investigate a recombination event occurring between the HLA-B and DRB1 loci in a Chinese family with a leukemia patient. Methods HLA class Ⅰ (-A and -B) low resolution typing was carried out by polymerase chain reaction-sequence specific oligonucleotide, PCR-SSO). HLA class Ⅱ low resolution typing was performed by PCR-sequence specific primer(PCR-SSP). And HLA class Ⅰ and Ⅱ high resolution typing was done by sequencing-based typing (SBT). Then the recombination event was analyzed by family study. Results The 2 haplotypes of the patient were A * 3101-B * 1301-DRB1 * 0701and A* 3303-B * 4403-DRB1 * 1302. His father's 2 haplotypes were A * 3001-B* 1302-DRB1 * 0701 and A * 3101-B * 1301-DRB1 * 1501. Family study demonstrated that the HLA-A * 3101-B * 1301 was from one of his father's chromosome and the DRB1 * 0701 was from the other chromosome of his father. So the result indicated that the recombination event occurred between the HLA-B and -DRB1 loci during meiosis of his father and resulted in a new HLA haplotype that was transfered to the son. Conclusion A HLA-B/DR recombination event occurring between the HLA-B and -DRB1 loci has been found in a Chinese family, which may help further study of the mechanism of HLA recombination.
