四川骨髓库汉族人群HLA-DPB1与rs9277534等位基因频率及其连锁关系的分析

The frequency and linkage analysis of the HLA-DPB1 and rs9277534 alleles in the CMDP of Sichuan Han population

目的探讨四川骨髓库汉族人群HLA-DPB1和rs9277534等位基因分布及其之间的连锁关系。方法从四川骨髓库中随机选取200例无血缘关系的四川汉族志愿者标本,采用PCR-SBT方法对其HLA-DPB1等位基因分型,Taq Man探针法对其rs9277534等位基因分型并通过测序验证结果。利用Arlequin 3.1软件计算HLA-DPB1与rs9277534之间的连锁不平衡参数。结果本组四川骨髓库汉族人群中的DPB1等位基因：以DPB1＊05∶01∶01G频率为最高：0.412 5（165/400）;rs9277534等位基因：A和G的频率分别为0.4（160/400）和0.6（240/400）,AA、GG、AG基因型频率分别为0.165（33/200）、0.375（75/200）和0.46（92/200）。有10种HLA-DPB1等位基因型与rs9277534等位基因A、G之间存在连锁不平衡,DPB1＊04∶02∶01G、DPB1＊02∶01∶02G、DPB1＊02∶02∶01G和DPB1＊17∶01∶01G与rs9277534A完全连锁,DPB1＊05∶01∶01G、DPB1＊03∶01∶01G、DPB1＊13∶01∶01G、DPB1＊14∶01∶01G和DPB1＊21∶01与rs9277534G完全连锁。DPB1＊04∶01∶01G与rs9277534A等位基因之间呈高度连锁不平衡（｜D＇｜=0.95,P〈0.01）。结论四川骨髓库汉族人群的HLA-DPB1部分等位基因与rs9277534A/G等位基因连锁,对临床选择造血干细胞移植供者有参考价值。

Objective To investigate the distribution characteristics of HLA-DPB1 and rs9277534 alleles and their linkage relationship in the China Marrow Donor Program（ CMDP） of Sichuan Han population. Methods 200 samples were collected from unrelated healthy blood donors in the CMDP of Sichuan.The DNA of blood donors were extracted by blood DNA extraction kits. PCR-SBT was applied for HLA-DPB1 genotyping,and Taq Man was applied for rs9277534 genotyping. The Arlequin 3. 1 software was used for linkage disequilibrium analysis of the HLA-DPB1 and rs9277534 alleles. Results The genotype of DPB1＊05 ∶01： 01 G allele was the most common with a frequency of 0. 412 5（ 165/400）. The allele frequencies of A and G were 0. 4（ 160/400） and 0. 6（ 240/400）. AA,GG and AG genotype frequencies were 0. 165（ 33/200）,0. 375（ 75/200）and 0. 46（ 92/200）. 10 HLA-DPB1 alleles were found to be in significant LD with the rs9277534 SNP. The DPB1＊04 ∶ 02 ∶01 G,DPB1＊02 ∶01 ∶02 G,DPB1＊02 ∶02 ∶01 G and DPB1＊17 ∶01 ∶01 G were in complete linkage with the rs9277534 A allele,while DPB1＊05 ∶01 ∶01 G,DPB1＊03 ∶01 ∶01 G,DPB1＊13 ∶01 ∶01 G,DPB1＊14 ∶01 ∶01 G and DPB1＊21 ∶01,were in complete LD with the rs9277534 G allele. Though not completely,DPB1＊04 ∶01 ∶01 G（ D＇ = 0. 95; P〈0. 01） were found to be in significant LD with the rs9277534 A allele. Conclusions This study expounds the LD between certain HLA-DPB1 and rs9277534 A/G alleles in the CMDP of Sichuan Han Population,which provided valuable reference data for the clinical selection of donors in hematopoietic stem cell transplantation.