α-1,3-N-乙酰半乳糖胺转移酶基因467C>T和804insG 变异导致 Ael 亚型

摘要

Objective To explore the effect of variants of α-1,3-N-acetylgalactosaminyltransferase of the ABO gene on A antigen expression.Methods Three samples were assayed by serological method.The extracted DNA was genotyped by sequence-specific primer polymerase chain reaction (SSP-PCR)and direct sequencing.To identify haploid of the ABO gene,clones for exons 6 and 7 of the ABO locus were analyzed. Results All of the three samples were identified as the Ael subgroup,among which were found to carry the Ael08 and O01 alleles,while another was confirmed to harbor the Ael08 and O04 alleles.Compared with the A101 allele,two nucleotide alterations (467C > T and 804insG)at exon 7 have resulted in amino acid substitution P1 56L and frameshift from position 269.Conclusion 467C>T and 804insG variants of the α-1,3-N-acetylgalactosaminyltransferase gene probably underlie the Ael phenotype.%目的：研究 ABO 基因的α-1,3-N-乙酰半乳糖胺转移酶基因变异对于 A 抗原表达的影响。方法通过标准血型血清学方法鉴定3份 A 亚型样本,应用聚合酶链反应-序列特异性引物扩增 ABO 基因第6、7外显子 PCR 产物直接测序及基因克隆测序等方法进行 ABO 基因分型及单倍型序列分析。结果3份 A 亚型样本的血清学检测结果均为 Ael 型,其中2份样本分别含有 Ael08和 O01等位基因,1份样本含有 Ael08和 O04等位基因。Ael08等位基因与 A101等位基因相比,差异在第7外显子的467C>T 和804insG 变异,导致多肽链 P156L 替换和269位氨基酸移框突变。结论α-1,3-N-乙酰半乳糖胺转移酶基因467C>T 和804insG 变异可能是 Ael 亚型分子基础之一。