4例人类白细胞抗原罕见等位基因的结果分析

Result analysis of four human leukocyte antigen rare alleles

背景:虽然国内与国外关于新等位基因的报道较多,但是,因某些等位基因首次发现较晚,而后却再次被检测到,并且等位基因频率很低,此类相关文章报道甚少,这些等位基因往往被忽视。目的:检测与确认4例临床移植配型供受者携带的罕见等位基因。方法:采用快速DNA提取试剂盒从全血样本中提取基因组DNA,经人类白细胞抗原基因商品化测序分型试剂盒检测和SSP高分辨试剂盒验证,得到人类白细胞抗原高分辨分型结果。结果与结论:被检测到的4个罕见等位基因分别为B*27:15、B*51:39、C*07:66和C*08:22。对于以上4个等位基因虽被美国骨髓库列为罕见等位基因,但在中国可能并不罕见。事实证明,被美国骨髓库列为罕见等位基因的C*08:22为中国汉族人群常见等位基因。

BACKGROUND： Many articles concerned novel alleles reported in China and outside China, but some alleles were detected lately. After that, these alleles were tested again. Because frequencies of these alleles are very low few relevant articles are reported, so these alleles are ignored easily. OBJECTIVE： To test and identify four human leukocyte antigen rare alleles that patients and donors carries. METHODS： Genomic DNA was extracted automatically from blood samples using quick DNA purified kit, typed. by human leukocyte antigen locus commercial sequence-based typing kits and confirmed by sequence-specific primers high-resolution kits. RESULTS AND CONCLUSION： Four detected rare alleles are B＇27：15, B＇51：39, C＊07：66 and C＊08：22. The four above-mentioned human leukocyte antigen rare alleles defined by National Marrow Donor Program are not rare in China. The facts prove that C＊08：22 which was defined a rare allele by National Marrow Donor Program before is a common allele in Chinese Han nationality.