a-1,3-N-乙酰半乳糖胺转移酶基因EXON 7突变形成A311血型基因亚型  

A A311 Blood Group Gene Subtype Caused by a-1-3-Nacetylgalactosaminyltransferase Gene Exon 7 Mutations

作　　者：刘衍春[1] 刘毅[1] 赵卫军 郑凌[1] 马玲[1] 薛敏[1] 吴敏慧[1] 孙俊[1] 

机构地区：[1]江苏省血液中心输血研究室,江苏南京210042 [2]天津秀鹏生物技术公司,天津300384

出　　处：《中国实验血液学杂志》2014年第3期821-824,共4页Journal of Experimental Hematology

摘　　要：本研究对1例产生抗A抗体的血清学正反定型不符的A血型标本进行血型血清学分析及基因分析,以了解其分子基础。采用试管法进行血型血清学的检测,采用PCR-SSP对A基因进行扩增分析,采用Sanger测序法对A血型糖基转移酶基因进行测序分析。结果表明:血清学正反定型不符,初定为A亚型;PCR-SSP扩增检测结果有O、A血型基因的存在;对ABO基因第6外显子测序发现存在c.261delG,显示有O基因;对A、O基因第7外显子进行特异性扩增测序分析显示,在A单倍型基因第7外显子出现c.467 C>T、c.626 G>A的突变,在O单倍型基因第7外显子出现c.646T>A、681G>A、771C>T、829G>A等突变。结论:该献血者在A基因第7外显子的c.626G>A是新的等位基因突变,c.467 C>T是SNP;新突变的GenBank序列号是KC690281,被BGMUT命名为1个新的A等位基因亚型A311。This study was purposed to analyses the serological and molecular basis of one sample of A blood group which has anti-A. The tube method was used to detect the blood group phenotype, the genotype was amplified by PCR- SSP. The sequence of α-l-3-N-acetylgalactosaminyltransferase gene of blood group was determined by Sanger method. The results showed that serological results of blood group were discrepant. It was determined as A subtype firstly. The result of PCR-SSP showed the existence of O and A blood group gene. The sequencing result of the 6th exon of ABO gene showed the existence of c. 261delG, which refers to the O gene. The specific amplification sequencing analysis was carded out on the 7th exon of the O and A blood group gene. Two mutations in the 7th exon of the A gene haplotype, c. 467 C 〉 T and c. 626 G 〉 A, four mutations in the 7th exon of the O gene haplotype, c. 646T 〉 A, 681G 〉 A, 771C 〉 T, 829G 〉 A had been detected. It is concluded that a novel allelic mutation c. 626 G 〉 A in the 7th exon of A gene is explored. The Genbank access number of this novel mutation is KC690281. c. 467 C 〉 T is SNP. The combination of two allele mutation of A gene is named as a new allelic subtvoe A311.

关 键 词：a-1 3-N-乙酰半乳糖胺转移酶基因 EXON 7基因突变 A311血型基因亚型 

分 类 号：R457.11[医药卫生—治疗学]