5186例上海汉族无关脐带血HLA基因多态性研究

HLA gene polymorphism of 5186 unrelated cord blood donors from Shanghai Han population

目的了解上海地区汉族人群脐带血供者HLA-A、B、DRB1基因及单体型频率的分布特征。方法采用基因分型技术对5 186例脐带血进行HLA-A、B、DRB1基因分型,利用最大似然性原理方法计算HLA-A、B、DRB1基因及单体型频率。结果 5 186例脐带血样本中,共观察到72种HLA基因,其中频率>0.1的HLA-A、B、DRB1基因分别为A2、A11、A24、B60、B13、B46、DR9、DR12、DR4、DR15。385条A-B单体型中,195条单体型呈现显著的正连锁不平衡(A.L.D>0),12条表现为强连锁不平衡(R.L.D>0.40),26条单体型的频率高于0.01;387条B-DRB1单体型中,159条单体型呈现显著的正连锁不平衡(A.L.D>0),7条表现为强连锁不平衡(R.L.D>0.40),20条单体型的频率高于0.01;1847条A-B-DRB1单体型中,760条单体型是"可靠的"(频率≥2.89×10-4),单体型频率高于0.005有29条。结论上海汉族新生人群脐带血HLA基因和单体型多态性较为丰富,其频率分布数据和相关遗传参数为临床移植供者的选择、脐带血库的建立及人类遗传学研究提供了重要的参考。

Objective To analyze the distribution feature of HLA-A,B and DRB1 alleles and haplotypes of cord blood units （CBUs） in Shanghai Han population. Methods Frequencies of HLA-A 、B and DRB1 alleles and haplotypes were estimated by maximum-likelihood estimation based on the genotypes of 5186 cord blood units （CBUs） from Shanghai Han population. Results A Total of 72 HLA alleles were observed and the most frequent alleles （ 〉 0. 1 ） were A2 ,A11 ,A24 B60,B13,B46,DR9,DR12,DR4 and DR15. Among the 385 kinds of A-B haplotypes,there were 26 kinds with a freqnency 〉 0.01, and 195 kinds showed significantly positive linkage disequilibrium（ ALD 〉 0 ）. Moreover, among the 387 kinds of B- DRB1 haplotypes, there were 20 haplotypes with frequencies 〉 0.01, and 159 kinds showed significantly positive linkage disequilibrium（ALD 〉0）. Of 1847 HLA-A-B-DRBI haplotypes,there were 760 with frequencies ≥2.89 × 10 -4 and a total of 29 kinds of HLA-A-B-DRB1 haplotypes had frequencies 〉 0.005. Conclusion HLA genotypes and haplotypes in the cord blood of Shanghai Han neonatal population are polymorphic and versatile. Study on the HLA genetic background is important for donor selection, and for the establishment of cord blood bank and human genetics research.