【摘要】：目的研究廣西地區(qū)人群造血干細胞捐獻志愿者的HLA-A、B、DRB1位點在高分辨水平上的等位基因多態(tài)性、基因頻率及單體型分布特征。方法應(yīng)用PCR-直接測序法(PCR-SBT)對中國造血干細胞捐獻者資料庫(CMDP)廣西分庫,3 431名無個體血緣關(guān)系健康供者的HLA-A、B、DRB1等位基因進行高分辨分型。結(jié)果共檢出HLAA等位基因43個,B等位基因80個和DRB1等位基因42個,HLA-A-B-DRB1單體型檢測到1507種。其中頻率0.05的常見等位基因,包括5種HLA-A∶A~*11∶01,A~*24∶02,A~*02∶03,A~*02∶07,A~*33∶03;6種HLA-B∶B~*46∶01,B~*40∶01,B~*15∶02,B~*58∶01,B~*13∶01,B~*38∶02;7種HLA-DRB1∶DRB1~*15∶01,DRB1~*16∶02,DRB1~*09∶01,DRB1~*03∶01,DRB1~*12∶02,DRB1~*14∶54,DRB1~*15∶02。487條HLA-A-B單體型中,79條單體型呈現(xiàn)顯著的正連鎖不平衡(ALD0,HF≥1.09×10-4,χ23.84),5條表現(xiàn)為強連鎖不平衡(RLD0.40),18條單體型的頻率0.01;597條HLA-B-DRB1單體型中,68條單體型呈現(xiàn)顯著的正連鎖不平衡(ALD0,HF≥1.09×10-4,χ23.84),8條表現(xiàn)為強連鎖不平衡(RLD0.40),16條單體型的頻率高于0.01;1 507條HLA-A-B-DRB1單體型中,統(tǒng)計分析三座位單體型最常見的是A~*33∶03-B~*58∶01-DRB1~*03∶01(0.058 8)。結(jié)論廣西地區(qū)人群HLA-A、B、DRB1位點在高分辨水平上獲得等位基因頻率、單體型分布數(shù)據(jù)及相關(guān)遺傳參數(shù),為今后開展臨床造血干細胞移植、中國人群CWD表的制訂和骨髓庫最適庫容的評估等研究及相關(guān)疾病研究提供本地區(qū)信息。
[Abstract]:Objective to study the allelic polymorphism, gene frequency and haplotype distribution of the HLA-A,B,DRB1 locus at the high resolution level in the donor volunteers of hematopoietic stem cells in Guangxi. Methods PCR- direct sequencing (PCR-SBT) was used to type the HLA-A,B,DRB1 alleles in the (CMDP) Guangxi sublibrary of Chinese hematopoietic stem cell donor database and 3 431 unrelated healthy donors. Results there were 43 HLAA alleles, 80 B alleles and 42 DRB1 alleles. 1507 HLA-A-B-DRB1 haplotypes were detected. Common alleles with frequency 0. 05, including 5 HLA-A:A~*11:01,A~*24:02,A~*02:03,A~*02:07,A~*33:03; Six HLA-B:B~*46:01,B~*40:01,B~*15:02,B~*58:01,B~*13:01,B~*38:02; Among 7 HLA-DRB1:DRB1~*15:01,DRB1~*16:02,DRB1~*09:01,DRB1~*03:01,DRB1~*12:02,DRB1~*14:54,DRB1~*15:02.487 HLA-A-B haplotypes, 79 haplotypes showed significant positive linkage disequilibrium (ALD0,HF 鈮，

本文編號：2352436