A_X亚型中发现1个新突变位点  

A new mutation site found in Ax subtype

作　　者：钱江 

机构地区：[1]金华市中心血站,浙江金华321000

出　　处：《中国输血杂志》2014年第5期514-515,共2页Chinese Journal of Blood Transfusion

摘　　要：目的对1例ABO正反定型不符的献血者标本进行分子生物学鉴定,分析其遗传特征。方法采用常规血清学方法鉴定1例ABO血型疑难标本的红细胞表型,对其进行聚合酶链反应,采用PCR产物直接测序分析其序列。结果该标本ABO血型为Ax亚型,测序结果与A101参考序列相比较,在其基础上发生389T>C点突变,产生A等位基因新突变位点,即Axnew/O02。结论在中国人群中发现1个Ax亚型新突变位点。Objective To test one ease of ABO positive and negative stereotype inconsistent blood specimen from a donor by molecular biological technichs,and to analyze its genetic characteristics. Methods Using routine serological method to identify 1 case of specimen which is ABO blood group confused. PCR amplification and sequencing the PCR products to analyse its sequence. Results The ABO blood group of this sample is Ax subtype, Comparison of the sequencing results with AIOI reference sequence indicates that 389T 〉 C mutation occurred, resulting in a novel mutation of the A allele, that is Axnew/O02. Conclusion A novel mutation in the Ax subtype was found in Chinese crowd.

关 键 词：ABO血型 AX亚型 突变位点 

分 类 号：R457.11[医药卫生—治疗学]