a-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  

Ael subgroup due to a-1,3-N-acetylgalactoseaminotransferase gene 467C〉T and 804insG variants

作　　者：章旭 李剑平 

机构地区：[1]辽宁省血液中心,沈阳110044 [2]沈阳市细胞应用研究中心

出　　处：《中华医学遗传学杂志》2016年第4期526-529,共4页Chinese Journal of Medical Genetics

基　　金：沈阳市科技计划项目（F-10-1499-35;F10-206-1-00）

摘　　要：目的研究ABO基因的a-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，应用聚合酶链反应一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Ae108和001等位基因，1份样本含有Ae108和004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a-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。Objective To explore the effect of variants of a-l,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 004 alleles. Compared with the A101 allele, two nucleotide alterations （467C〉 T and 804insG） at exon 7 have resulted in amino acid substitution P156L and frameshift from position 269. Conclusion 467C）T and 804insG variants of the a- 1,3-N-acetylgalactosaminyltransferase gene probably underlie the Ael phenotype.

关 键 词：ABO基因 Ⅱ-1 3-N-乙酰半乳糖胺转移酶基因 Ael亚型 

分 类 号：R440[医药卫生—诊断学]