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目的了解中国重庆地区汉族人群人类白细胞抗原HLA-DRB1基因多态性及其分布特点。方法应用自行建立的聚合酶链式反应-测序为基础的分型方法(PCR-SBT)对190例重庆地区汉族人群进行HLA-DRB1基因分型和多态性分析。结果共检测出13种HLA-DRB1等位基因,20种等位基因型。其中,HLA-DRB1*09:01(29.1%)等位基因频率最高,其次为HLA-DRB1*04:05(12.2%)、HLA-DRB1*08:03(9.3%),基因频率最低的是HLA-DRB1*12:01、HLA-DRB1*12:02、HLA-DRB1*14:05和HLA-DRB1*15:02,各占1.26%。此外,检出的20种HLA-DRB1等位基因型在男女性别间无显著差异。结论成功建立并优化了HLA-DRB1的PCR-SBT基因分型方法;重庆地区汉族人群HLA-DRB1等位基因呈现多态性,为群体遗传和疾病关联的研究提供了可靠的遗传学数据。
Objective To understand the polymorphism and distribution of human leukocyte antigen HLA-DRB1 in Han population of Chongqing, China. METHODS: HLA-DRB1 genotypes and polymorphisms were analyzed in 190 Han population in Chongqing using polymerase chain reaction-sequencing-based typing (PCR-SBT). Results A total of 13 HLA-DRB1 alleles and 20 alleles were detected. Among them, HLA-DRB1 * 09: 01 (29.1%) had the highest frequency of alleles, followed by HLA-DRB1 * 04:05 (12.2%) and HLA-DRB1 * 08: 03 HLA-DRB1 * 12: 01, HLA-DRB1 * 12: 02, HLA-DRB1 * 14: 05 and HLA-DRB1 * 15: 02, each accounting for 1.26%. In addition, the 20 HLA-DRB1 alleles detected were not significantly different between men and women. Conclusion The PCR-SBT genotyping method of HLA-DRB1 was successfully established and optimized. The HLA-DRB1 allele of Han population in Chongqing showed polymorphism, which provided reliable genetic data for the study of population genetic and disease association.