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为了研究中国汉族人群ABO血型系统中A2亚型的分子遗传背景,发现并鉴定新的ABO等位基因,采用血型血清学方法鉴定5例ABO血型疑难样本,PCR扩增ABO基因转录调控序列和全编码序列,PCR产物经割胶纯化后直接测序,并对含有变异位点的扩增片段进行单倍体序列分析。结果表明5例疑难样本分别鉴定为A2或A2B亚型;进一步研究发现,1例A2B和1例A2样本分别含有A201和A205等位基因,另3例A2B样本中发现一个新的A2等位基因。该等位基因与A101相比,差异在外显子7的467C>T和539G>C变异,导致多肽链P156L和R180P的替换。结论首次发现467C>T和539G>C组合的A2等位基因,中国汉族人群中A2亚型具有遗传多态性。
In order to study the molecular genetic background of A2 subtype in ABO blood group in Chinese Han population, new ABO alleles were found and identified, and 5 ABO blood group samples were identified by blood group serological method. The ABO gene transcriptional control sequences were amplified by PCR The PCR products were sequenced directly after excision of the gel and haplotype sequence analysis was performed on the amplified fragments containing the mutation sites. The results showed that five samples were identified as A2 or A2B subtypes respectively. Further studies showed that one A2 A2 sample and one A2 sample contained the A201 and A205 alleles, respectively, and the other A2 A2 sample found a new A2 allele . This allele differs from A101 in the 467C> T and 539G> C variations in exon 7 resulting in the replacement of polypeptide chains P156L and R180P. Conclusions The A2 allele of 467C> T and 539G> C combinations was found for the first time. A2 subtype in Chinese Han population has genetic polymorphism.