北方汉族HLA-DRB1、DQB1基因多态性的研究

Polymorphism of HLA DRB1, DQB1 in the Hans of north China

目的从基因水平了解北方汉族ＨＬＡ－ＤＲＢ１、ＤＱＢ１多态性分布，获得更完整、更准确的遗传学数据。方法应用ＰＣＲ－ＳＳＰ方法对１０７名北方汉族健康人进行了ＨＬＡ－ＤＲＢ１、ＤＱＢ１等位基因分型。结果鉴定了１４个ＤＲＢ１等位基因，９个ＤＱＢ１等位基因，包括了ＤＲ、ＤＱ位点的全部血清学特异性。结论提供了一套比较完整准确的ＤＲＢ１、ＤＱＢ１等位基因的基因频率和连锁不平衡参数。对群体遗传和疾病关联的研究具有重要的意义。

Objective To understand polymorphism of HLA DRB1,DQB1 in the Hans of North China and obtain more comprehensive and accurate data on genetics at DNA level.Methods Polymerase chain reaction sequence specific primers (PCR SSP) were used to determine HLA DRB1,DQB1 alleles in 107 unrelated healthy Han individuals of North China.Results The authors determined 14 DRB1,9 DQB1 alleles, which included not only the allele frequencies that corresponded to the gene frequencies of DR, DQ loci determined by other 9 cooperating labs but also the allele frequencies of DRB1*15, DRB1*16,DQB1*0301,DQB1*0302,DQB1*0303,DQB1*05,DQB1*0601,DQB1*0602 and DQB1*0604 that other serology labs did not report.Conclusion This study has obtained a more comprehensive and accurate data set of the normal allele frequencies and linkage disequilibria parameters of HLA DRB1,DQB1 in the Hans of North China, which may be of significance in the studies on population genetics and disease association.