摘要目的 研究中国南方汉族人群HLA-A、B、Cw、DRBl、DQBl等位基因多态性及单倍型的分布特征.方法 应用聚合酶链反应-直接测序分型(polymerase chain reaction sequence-based typing,PCR-SBT)法对186名中国南方汉族健康人群HLA-A、B、Cw、DRBl、DQBl进行基因分型.结果 检出的HLA-A、B、Cw、DRBl、DQBl等位基因分别有28、49、24、29、20种.经统计分析A*0207-B*4601(10.81%),A*3303-B*5801(6.14%),B*4601-DRBl*0901(6.22%),B*4001*DRBl*0901(3.78%),DRBl*0901-DQBl*0303(12.16%)和DRBl*1202-DQBl*0301(8.38%)单倍型呈强连锁不平衡单倍型(RLF≥0.5,X<'2>>3.84,P<0.05);A*0207-B*4601-Cw*0102(10.75%),A*3303-B*5801-Cw*0302(5.14%),A*0207-B*4601-DR*0901(5.07%),A*3303-B*5801-DRBl*0301(2.96%),A*0207-B*4601-Cw*0102-DRBl*0901-DQBl*0303(4.87%)和A*1101-B*1301-Cw*0304-DRBl*1501-DQBl*0601(2.43%)单倍型分别是中国南方汉族人群常见单倍型.结论 中国南方汉族人群HLA 5个基因座单倍型分布具有高度的遗传多态性且有其自身分布特点.本研究获得的较完整的HLA 5个基因座单倍型分布数据,将为人类学、HLA疾病相关性和器官移植等研究提供遗传学参考数据.

abstractsObjective To analyze the polymorphism and haplotypes of HLA-A, B, Cw, DRB1 and DQB1 loci in Chinese Han population. Methods A total of 186 unrelated healthy individuals from southern China were analyzed by sequence-based typing. Two-, three-, and five-locus haplotypes were estimated using the Expectation Maximization Algorithm. Results Twenty-eight alleles for the HLA-A locus, 49 HLA-B alleles,24 HLA-C alleles,29 HLA-DRB1 alleles and 20 HLA-DQB1 alleles were detected. The A * 0207-B * 4601(10.81% ), A * 3303-B * 5801(6.14%), B * 4601-DRB1 * 0901 (6.22%), B * 4001 * -DRB1 * 0901(3.78%), DRB1 * 0901-DQB1 * 0303 (12.16%) and DRB1 * 1202-DQB1 * 0301(8.38%), A * 0207-B * 4601-Cw * 0102 (10.75%), A * 3303-B * 5801-Cw * 0302 (5.14%), A * 0207-B * 4601-DR *0901(5.07%), A* 3303-B * 5801-DRB1 * 0301(2.96%), A * 0207-B* 4601-Cw * 0102- DRB1 * 0901-DQB1 * 0303(4.87%) and A * 1101-B * 1301-Cw * 0304-DRB1 * 1501-DQB1 * 0601 (2.43%) were the most common haplotypes in the southern Chinese Han population. Concision The results have shown the characteristics of the five HLA loci haplotype distribution and provided more information in anthropology, disease association studies and transplantation.