序列特异性引物-聚合酶链反应法用于广东汉族人群HLA DQA1等位基因分析  

HLADQA1 ALLELE ANALYSIS IN GUANGDONG HANS WITH SSPPCR

作　　者：吴耀生[1,2] 罗超权[1,2] 杨英浩[1,2] 伍新尧 

机构地区：[1]中山医科大学生化教研室 [2]广西医科大学生化教研室

出　　处：《中山医科大学学报》1998年第2期112-114,共3页Academic Journal of Sun Yat-sen University of Medical Sciences

基　　金：美国中华医学基金

摘　　要：目的：研究广东汉族人群中人类白细胞抗原（ＨＬＡ）ＤＱＡ１等位基因频率分布，为ＨＬＡＤＱＡ１相关疾病的研究及人类学的研究提供基础资料。方法：用序列特异性引物聚合酶链反应（ＳＳＰＰＣＲ）法对广东汉族人群作ＨＬＡＤＱＡ１等位基因分型，根据出现扩增产物所用的序列特异性引物，直接分析判断受检查者的基因型别。结果：１４６例广东汉族健康无血缘关系个体中共检出１０个等位基因，以ＤＱＡ１０３０１的频率（０．２９１）最高，基因型的观察值与期望值相比，符合ＨａｒｄｙＷｅｉｎｂｅｒｇ平衡，纯合基因型的观察值与期望值相比，Ｐ＞０．９５，家系调查及重复性试验显示结果可靠。结论：广东汉族ＨＬＡＤＱＡ１基因与其他１０组华人群体的资料比较，总体检验有显著差异，但均以ＤＱＡ１０３０１的频率最高，显示华人的遗传系统既有共性亦有各自的特点，南方汉族人群体间或与南方一些少数民族比较均有显著差异，显示南方华人群体遗传背景的复杂性。Objective: Study the frequency distribution of HLA DQA 1 allele in Guangdong Hans to provide a basic data for further anthropologic study and the HLA DQA 1 associated dissease. Methods: HLA DQA 1 alleles were typed by sequence specific primer PCR. The HLA DQA 1 allele can be directly recognized according to the primer pairs used in producing the PCR products. Results:10 DQA 1 alleles were detected among 146 unrelated individuals of Guangdong Hans. The highest frequency among the alleles is DQA1*0301(0.291). The comparison of the observed and expected genotype data by χ2 test was in accord with the HardyWeinberg equilibrium. The genotypes investigated in 10 nuclear families with SSPPCR accorded with dominant Mendelian inheritance. It suggested that the results were reliable. Conclusions: The frequencies of HLA DQA 1 alleles between GD Han population and other 10 groups of Han population showed significant difference using the χ2test (P<0.0001),although the highest frequency is DQA 1*0301 in all Han population tested. These results suggested that there are common characterization and individual difference in the hereditary systemes of Han population, and the complexity of genetic heredity in Han populations of south China. Our results provided some significant information for the anthropologic reseach on the ethnics and the with HLA DQA 1 associated disseases.

关 键 词：HLA 等位基因 聚合酶链反应 DQA1 

分 类 号：R392.11[医药卫生—免疫学] Q347[医药卫生—基础医学]