29insG新突变导致B_(el)亚型的血清学和分子生物学分析1例

Serological and genetic analysis of a B_(el) subtype caused by a novel 29insG mutation:a case report

目的探讨1例B_(el)亚型的血清学特征和分子机制。方法通过血型血清学方法分析患者ABO血型,吸收放散试验检测患者红细胞上的弱抗原,使用分子生物学方法对ABO血型基因序列分析。结果患者正定型为O型,反定型为B型,正反不相符,吸收放散法确认有弱B抗原。该突变点经查ISBT及相关文献均未发现同种情况,该突变为首次发现。结合3-7外显子序列情况患者血型是B_(el)(29insertG)/O.01.01。结论在临床日常工作中遇到ABO血型正反不相符的情况,结合血清学和分子生物学检测技术可以提高ABO血型鉴定的准确性和可靠性。

Objective To investigate the serological characteristics and molecular mechanism of a case of B_(el) subtype.Methods Serological method was used to analyze the ABO blood group of the patient,absorption and elution test was used to detect the weak antigen on red blood cells,and molecular biology method was used to analyze the ABO gene sequence of the patient.Results The forward typing of the patient was O type,but the reverse typing was B type.The weak B antigen was confirmed by absorption and elution method.This mutation was not found in ISBT and related literature,and was discovered for the first time.The patient′s blood type was B_(el)(29insertG)/O.01.01 based on the sequence of exon 3-7.Conclusion In the case of ABO blood group incompatibility,the combination of serological and molecular biological detection techniques can improve the accuracy and reliability of ABO blood group identification.