α-1，3-N-乙酰半乳糖胺基转移酶等位基因467Cgt;T及539Ggt;C变异导致.docVIP

α-1，3-N-乙酰半乳糖胺基转移酶等位基因467Cgt;T及539Ggt;C变异导致 　 作者：许先国，洪小珍，吴俊杰，马开荣，傅启华，严力行 【摘要】 　　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467Cgt;T和539Ggt;C变异，导致多肽链P156L和R180P的替换。结论：首次发现467Cgt;T和539Ggt;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。 【关键词】 A2亚型；α-1，3-N-乙酰半乳糖胺基转移酶；ABO血型系统 　　Variants 467Cgt;T and 539Ggt;C of the α-1，3-N-acetylgalactosaminyltransferase Allele Responsible for A2 Subgroup 　　Abstract The purpose of this study was to investigate the molecular genetic basis of A2 subgroup and identify the novel alleles at ABO locus in Chinese Han population. All seven exons and their flanking sequences，enhancer and promoter in the ABO gene of five samples from individuals with serological discrepancies were amplified by polymerase chain reaction (PCR); the PCR products were screened by directly sequencing; the haplotypes of exon 6 and 7 were analyzed by TOPO cloning sequencing. The results showed that five samples were identified as A2 or A2B subgroup by serological technology. The A201 and A205 alleles were confirmed in one A2B individual and one A2 individual，respectively. A novel A2 variant allele was identified in three A2B individuals. The two nucleotide acid alterations (467Cgt;T and 539Ggt;C) at the exon 7 resulting in two amino acid substitutions (P156L and R180P) in this novel allele were observed，when compared with A101 allele. It is concluded that the polymorphism of A2 allele is found to be relatively variable in Chinese population，and a novel A208 allele responsible for A2 subgroup is firstly reported. 　　Key words A2 subgroup; α-1，3-N-acetylgalactosaminyltransferase; ABO blood group system ABO血型系统是具有重要临床意义的人类红细胞血型系统，涉及临床安全输血、器官移植和法医学鉴定等领域。分子克隆研究显示，ABO基因位点包括3个主要等位基因A101（或α-1，3-N-乙酰半乳糖胺基转移酶等位基因）、B101（或α1，3半乳糖基转移酶等位基因）和O01。A101和B101等位基因含7个外显子，转录的mRNA全长1 065 bp，编码1条354个氨基酸残基的蛋白质，该蛋白质具有糖基转移