【摘要】 目的识别并确认中国人群HLA新等位基因。方法采用基因克隆、测序及生物信息学技术,分析HLA新等位基因与HLA已知基因序列的差异。建立HLA新等位基因序列特异引物聚合酶链反应(PCR-SSP)分型方法,并对1200名HLA-A*11阳性的造血干细胞移植无关供者(包含100名HLA-A*11纯合子个体)进行HLA新等位基因筛选和频率分析。结果HLA新基因与A*110101的差异只是在外显子3区域中279位碱基发生C→T突变,导致93位密码子由CAC变为CAT,但氨基酸未发生变化,并最终被世界卫生组织HLA因子命名委员会正式命名为HLA-A*110104。该新基因出现在2个无关家系中,分别具有2～3代遗传史。在1200名无关供者中未发现其他带有新基因的个体。其基因频率为0．000 83。结论HLA-A*110104新基因具有稳定的遗传性和一定的普遍性,对无关供者的选择和人类学、遗传学等的研究具有一定意义。更多还原

【Abstract】 Objective To identify novel HLA alleles in Chinese population. Methods Molecular cloning, sequencing and bioinformatics techniques were used to identify the difference between the new HLA allele and other known alleles. PCR-SSP method for the new HLA allele identification was established and used to screen this new allele in 1200 HLA-A * 11 positive unrelated hematopoietic stem cell transplantaion donors, including 100 HLA-A * 11 homozygotes. The frequency of new HLA allele was analyzed. Results The new allele differed from HLA-A * 110101 allele by one nucleotide substitution (279C→T) in exon 3, resulting in a silent mutation at condon 93(CAC-CAT) without any amino acid alteration. It had been officially assigned as A * 110104 by the WHO Nomenclature Committee. The new allele existed in two unrelated families and has been inherited for 2 to 3 generations. No further A * 110104 positive individuals were detected in 1200 HLA-A * 11 samples, so the new allele frequency was 0.000 83. Conclusion The new allele has the characteristics of steady inheritance and generalism to some extent. It might do some help for unrelated donors selection and anthropology and genetics studies.更多还原