A_3等位基因的分子遗传分析  

Molecular Genetic Analysis for the A_3 Alleles

作　　者：喻琼[1] 梁延连[1] 邓志辉[1] 吴国光[1] 苏宇清[1] 张旋[1] 程良红[1] 

机构地区：[1]深圳市血液中心,深圳市输血医学研究所深圳518035

出　　处：《中国实验血液学杂志》2005年第1期135-139,共5页Journal of Experimental Hematology

基　　金：广东省医学科研基金课题 (编号 2 0 0 164 1);深圳市科技局资助项目 (编号 2 0 0 3 0 42 17)

摘　　要：为了研究血型血清学鉴定为A3型的 4例样本 ,其中 2例样本为一个家系 ,用血清学方法检定其 3例为A3型 ,1例为A3B型 ,通过PCR SSP与测序分析其Exon 6与Exon 7及部分内含子 ,与A10 1等位基因参比序列进行了比较。结果发现在 2例A3型样本中单倍体分别为常见的A10 2等位基因与O1- 2等位基因 ,1例A3样本中单倍体分别为常见的A10 2等位基因与少见的O1V - 4等位基因 ,1例A3B样本在A基因中发现 838C→T(Leu2 80Phe) ,此研究结果提示血清学表现为A3型的分子遗传背景存在多态性 ,A3B型的 838C→T可能是A3低转移酶活性的分子基础。To study four A 3 subgroup samples identified by serologic tests, among which two belong to a family, three were A 3 subgroup, one was A 3B subgroup. All four samples were genotyped by PCR-SSP method, and the nucleotide sequences of Exon 6, Exon 7 and part introns at the ABO locus for these samples were detected by ABI Prism 3100 DNA sequencer. Comparison with the consensus of A101 was perfomed. The results showed that haplotypes of two A 3 subgroups were common A102 allele and O1-2 allele, and haplotypes of one A 3 subgroup were common A102 allele and rare O 1v-4 allele. Unexpectedly, a synonymous substitution 838C→T had been found in A allele of the A 3B subgroup sample, which predict a Leu280Phe alteration. The results suggested that molecular genetic background of the A 3 phenotypes is polymorphic. Possibly, the missense mutation 838C→T is the molecular genetic basis of A 3B subgroup that lead to low activity of the glycosyltransferases.

关 键 词：A3等位基因 A3亚型 A3B亚型 分子遗传学分析 

分 类 号：R457.11[医药卫生—治疗学]