国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2012年
6期
309-311,321
,共4页
薛灏%张志梅%张泓%曹琼
薛灝%張誌梅%張泓%曹瓊
설호%장지매%장홍%조경
人类白细胞抗原%序列特异性引物%基因序列测定%短片段串联重复序列%基因重组
人類白細胞抗原%序列特異性引物%基因序列測定%短片段串聯重複序列%基因重組
인류백세포항원%서렬특이성인물%기인서렬측정%단편단천련중복서렬%기인중조
Human leukocyte antigen (HLA)%Sequence specific primer (SSP)%Sequence-based test (SBT)%Short tandem repeat (STR)%Recombination
目的 探讨广东籍家系人类白细胞抗原等位基因的重组及规律.方法 采用PCR-序列特异性引物(sequence specific primer,SSP)和基因序列测定(sequence-based test,SBT)两种方法对2010年1月至2012年5月间进行骨髓移植配型的3个基因重组广东籍家系进行HLA-A、Cw、B、DRB1、DQB1高分辨分型,并通过短片段串联重复序列(short tandem repeat,STR)法对各家系的亲子关系进行鉴定.结果 3个家系中2例为母源性的A/Cw位点之间的基因重组,1例为父源性的B/DRB1位点之间的基因重组.重组后均产生了新的单倍型.结论 A/C、B/DRB1间的基因重组较为多见,母源性基因重组多于父源性基因重组.此次研究发现了1例B/DRB1间的父源性基因重组.
目的 探討廣東籍傢繫人類白細胞抗原等位基因的重組及規律.方法 採用PCR-序列特異性引物(sequence specific primer,SSP)和基因序列測定(sequence-based test,SBT)兩種方法對2010年1月至2012年5月間進行骨髓移植配型的3箇基因重組廣東籍傢繫進行HLA-A、Cw、B、DRB1、DQB1高分辨分型,併通過短片段串聯重複序列(short tandem repeat,STR)法對各傢繫的親子關繫進行鑒定.結果 3箇傢繫中2例為母源性的A/Cw位點之間的基因重組,1例為父源性的B/DRB1位點之間的基因重組.重組後均產生瞭新的單倍型.結論 A/C、B/DRB1間的基因重組較為多見,母源性基因重組多于父源性基因重組.此次研究髮現瞭1例B/DRB1間的父源性基因重組.
목적 탐토엄동적가계인류백세포항원등위기인적중조급규률.방법 채용PCR-서렬특이성인물(sequence specific primer,SSP)화기인서렬측정(sequence-based test,SBT)량충방법대2010년1월지2012년5월간진행골수이식배형적3개기인중조엄동적가계진행HLA-A、Cw、B、DRB1、DQB1고분변분형,병통과단편단천련중복서렬(short tandem repeat,STR)법대각가계적친자관계진행감정.결과 3개가계중2례위모원성적A/Cw위점지간적기인중조,1례위부원성적B/DRB1위점지간적기인중조.중조후균산생료신적단배형.결론 A/C、B/DRB1간적기인중조교위다견,모원성기인중조다우부원성기인중조.차차연구발현료1례B/DRB1간적부원성기인중조.
Objective To investigate the recombination event within HLA alleles in Guangdong families.Methods Peripheral blood samples were collected from 3 Guangdong families that need bone marrow transplantation,from January 2010 to May 2012.HLA-A,Cw,B,DRB1,DQB1 alleles were amplified and typed via high resolution with PCR-SSP and PCR-SBT respectively.Parent-child relationships were identified by PCR-STR.Results Among the three families,two cases of them were maternal genetic recombination between A/Cw loci and one of them was paternal genetic recombination between B/DRB 1 loci.The reorganization had produced a new haplotype.Conclusion Genetic recombination event occurring between A/Cw and B/DRB1 was more common,and maternal genetic recombination was more than paternal genetic recombination.This study found a paternal recombinant between B/DRB1.
