一例α-1，3-N-乙酰半乳糖胺转移酶基因389T〉C突变的分析  

Analysis of α 389 T 〉C variant of α-1,3-N-acetylgalactoseaminotransferase gene

作　　者：章旭 李剑平 Zhang Xu1, Li Jianping1,2(1. Liaoning Blood Center, Shenyang, Liaoning 110044, China;2. Shenyang Research Center for Cell Application, Shenyang, Liaoning 110044, China)

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,沈阳110044

出　　处：《中华医学遗传学杂志》2018年第5期744-746,752,共4页Chinese Journal of Medical Genetics

基　　金：沈阳市科技计划项目（F-10-149-9-35;F10-206-1-00）

摘　　要：目的对1例罕见Ax亚型的个体进行分子遗传学分析，探讨α-1，3-N-乙酰半乳糖胺转移酶基因突变对A抗原表达的影响。方法采用聚合酶链反应扩增血型血清学鉴定为Ax血型的样本ABO基因第6、7外显子序列，对PCR产物直接进行测序，发现杂合序列后进一步采用单倍体特异性引物进行序列测定。结果先证者红细胞含有弱A抗原，同时血清中含有抗-A和抗-B。直接测序分析发现ABO基因序列的261delG和389C／T杂合。单倍型序列分析得到两个等位基因Ax22和O01。Ax22基因序列与A101基因比对在第389位碱基为T〉C突变，导致多肽链发生L130P氨基酸替换。结论α-1，3半乳糖基转移酶基因389T〉C突变导致A抗原表达减弱。Objective To study the effect of a 389T 〉 C variant in the α-1,3-N- acetylgalactosaminyltransferase gene on the expression o- A antigen by molecular genetic analysis of an individual with Ax subtype of ABO variant. Methods Serological assays were carried out to identify the ABO blood group of the proband. Exons 6 and 7 of the ABO gene were amplified with PCR and directly sequenced. Following identification of the heterozygote site, specific primers were used to determine the haplotype of the ABO gene. Results Weak A antigen was detected on red blood cells from the proband. And anti-A and anti-B antibodies were detected in the serum. DNA sequencing has identified heterozygous 261delG and 389T/C variants in exons 6 and 7. By haplotype analysis, two alleles Ax22 and O01 were found. Compared with that of A101, the Ax22 allele had a nucleotide change （T to C） at position 389, which resulted in an amino acid substitution （L130P）. Conclusion T〉 C at nt389 of the α-1,3-N- acetylgatactosaminyl transferase gene can result in significant reduction of A antigen activity.

关 键 词：ABO基因 α-1 3-N-乙酰半乳糖胺转移酶基因 序列分析 

分 类 号：R457.1[医药卫生—治疗学]