B_w03血型血清学及基因型分析——附5例报告  

Analyze the phenotype and genotype of 5 samples of B_w03,Qingdao,China

作　　者：刘晓华 韩斌 乔显森 焦淑贤 冯智慧 

机构地区：[1]青岛市中心血站输血研究所,山东青岛266071 [2]青岛市中心医院输血科,山东青岛266071

出　　处：《中国输血杂志》2014年第6期616-619,共4页Chinese Journal of Blood Transfusion

基　　金：青岛市市南区科技发展资金项目(2013-13-013-YY)

摘　　要：目的分析4例正反定型不符的疑难血型标本和1例血清学和基因型不一致的标本的血清学和分子生物学特征。方法应用常规血型血清学方法进行血型鉴定;采用PCR-SSP法进行ABO初步基因分型的检测,并对ABO基因第6和第7外显子的核苷酸序列进行扩增、测序和分析。结果血清学鉴定为B亚型和正常B型的标本基因分型均初步判定为B亚型;基因测序及克隆测序发现他们的B基因第7外显子在正常B101核苷酸序列的基础上,均发生721C>T单碱基突变,确定这5例标本血型基因型Bw03。结论通过核苷酸序列分析能够明确5例标本基因型为Bw03,该等位基因241位氨基酸由精氨酸转变为色氨酸,可导致糖基转移酶活性的降低,表明ABO基因的第241位氨基酸对决定糖基转移酶活性至关重要。Objective To analyze the phenotype and genotype of 4 samples with ABO blood grouping discrepancies and a sample with inconsistencies of phenotype and genotypes. Methods Samples were detected with serologic and genetic methods. Phenotype was detected with traditional serological method,and then PCR-SSP was carried out to identify the genotypes of those samples. The sequence analysis of exons 6 and 7 of ABO gene was performed by sequence-based testing（ SBT）,and cloning sequencing. Results The phenotype and genotype of 4 samples with ABO blood grouping discrepancies were identified as B subtype,The genotype of a sample which phenotype was normal B type was detected to be B subtype too. A single-base mutation of 5 samples from C to T was found at the position of 721 in exon 7 comparing with B101 by direct sequencing and cloning sequencing. So the genotype of those samples were defined as Bw0301 finally. Conclusion The nucleotide of those samples altered from C to T at position of 721 in exon 7 and hence resulted in an amino acid change from Arg to Trp at position of 241,which was expected to diminish the enzyme＇s activity. The genotype of those samples were defined as Bw0301 finally. It indicates that the alteration of amino acid at the position of 232 is critical to the activity of glycosyltransferases.

关 键 词：ABO血型系统 B亚型 Bw0301 基因型 

分 类 号：R457.11[医药卫生—治疗学]