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目的研究新疆塔县自治区的塔吉克族人群的HLA等位基因的分布和多态性。方法采用PCR-SSP的方法对500份地处海拔3 000 m以上的塔吉克族聚居地无血缘关系的塔吉克族人群血液标本进行HLA-A、B、DRB1位点等位基因分型分析,并对分型结果做统计学分析。结果 500份标本中HLA-A、HLA-B、HLA-DRB1座位分别检出17、25、13个等位基因,HLA-A频率较高的等位基因为A*02、A*03、A*24,频率分别为24.73%,15.31%和14.82%;HLAB频率高的有B*51、B*35、B*52,频率分别为20.88%,13.73%和12.65%;HLA-DRB1频率高的有DRB1*13、DRB1*04、DRB1*15,频率分别为15.98%,14.02%和13.63%,并将结果与中国南北方汉族人和回族及维吾尔族等位基因频率的对比。结论获得了中国新疆塔吉克族人群HLA-A、B、DRB1等位基因的分布特征,新疆塔吉克人群等位基因频率分别最高的前5位是A*02、A*03、A*24、A*01、A*11、B*51、B*35、B*52、B*27、B*13、DRB1*13、DRB1*04、DRB1*15、DRB1*09、DRB1*07。塔吉克族人群A*03、A*01、B*52、B*27和DRB1*13的等位基因频率明显较高。
Objective To study the distribution and polymorphism of HLA alleles in Tajik ethnic groups in Ta County, Xinjiang Autonomous Region. Methods The HLA-A, B and DRB1 loci were genotyped by PCR-SSP in 500 blood samples of Tajik ethnic group in 500 Tajik settlements above 3,000 m. Typing results to do statistical analysis. Results The alleles of HLA-A, HLA-B and HLA-DRB1 in 500 samples were detected as 17, 25 and 13 alleles respectively. The alleles with higher HLA-A frequency were A * 02, A * 03, A * 24 with frequencies of 24.73%, 15.31% and 14.82%, respectively. The frequencies of HLA-DRB1 with high HLAB frequencies were 20.88%, 13.73% and 12.65% for B * 51, B * 35 and B * The frequencies of DRB1 * 13, DRB1 * 04 and DRB1 * 15 were 15.98%, 14.02% and 13.63% respectively, and the results were compared with the frequency of Han and Hui and Uygur alleles in North and South China. Conclusion The distribution characteristics of HLA-A, B and DRB1 alleles in Tajik population of Xinjiang were obtained. The top five alleles in Tajik population in Xinjiang were A * 02, A * 03, A * 24, A * 01, A * 11, B * 51, B * 35, B * 52, B * 27, B * 13, DRB1 * 13, DRB1 * 04, DRB1 * 15, DRB1 * 09, DRB1 * 07. The frequency of alleles in Tajik population A * 03, A * 01, B * 52, B * 27 and DRB1 * 13 was significantly higher.