ABO基因第7外显子c.539G>C突变致A_(2)B亚型结果分析

An analysis of the A_(2)B subtype caused by c.539G>C mutation in exon 7 of ABO gene

目的:探讨ABO基因第7外显子c.539G>C突变致A_(2)B亚型结果分析。方法:采用试管凝集法检测ABO血型,采用Sanger测序法进行基因测序及序列分析。结果:4例先证者红细胞为A弱B表型,根据血清学特征定义为A_(2)B血型,先证者1、3、4血清中无抗-A_(1)抗体;先证者2血清中存在抗-A_(1)抗体;4例血型基因型为ABO^(*)A2.08/ABO^(*)B.01,测序结果与A102基因序列比对,A208在c.467C>T和c.539G>C位发生突变,导致多肽链P156L和R180P替换。结论:α-1,3-N-乙酰半乳糖胺转移酶基因c.539G>C突变产生A208表型。

Objective:To investigate the results of the A_(2)B subtype caused by ABO gene exon 7 c.539G>C mutation.Methods:ABO blood typing was analyzed by the tube agglutination method.Gene sequencing and analysis were performed usingthe Sanger sequencing method.Results:Four probands had A weak B phenotype,which were defined as A_(2)B blood type according to serological characteristics.No anti-A_(1)antibodies were detected in the serum of probands 1,3,and 4.Anti-A_(1) antibodies existed in the serum of proband 2.The genotype of the four probands was ABO^(*)A2.08/ABO^(*)B.01.Sequencing results showed that compared with the A102,A208 had mutations at c.467C>T and c.539G>C positions,resulting in the substitution of the peptide chains P156L and R180P.Conclusion:The c.539G>C mutation in the gene ofα-1,3-N-acetylgalactosamine transferase has produced the A208 phenotype.