罕见B_(el)01亚型的血清学和基因分析

Serology and gene sequence analysis of rare B_(el)01 subtype

目的:探讨B_(el)01亚型的血清学特征和分子机制。方法:采用血型血清学方法分析该献血者ABO表型,磷酸盐耦联法检测糖基转移酶活性,PCR-SSP法进行ABO亚型基因分型,对第1~7外显子进行测序。结果:血清学试验检测疑为Bel,血清和红细胞上均无D-半乳糖基转移酶活性,ABO血型基因分型结果为BO2,基因测序结果确认为Bel01/O02,外显子1~7测序结果为该样本在B101/O02的基础上发生了16C>T以及18insTTGCA突变,该突变为首次发现。结论:ABO亚型鉴定需采用血清学方法联合基因分型和基因测序。

Objective:To investigate serological characteristics and molecular mechanism of B_(el)01 subtype.Methods:Phenotypes of ABO blood group was analyzed by blood group serology,and activity of glycosyltransferase was detected by phosphate coupling method.Exon 1~7 of ABO genes were screened by PCR-SSP method and directly sequencing.Results:Sample was suspected as belonging to Belsubtype.There was no D-galactosyltransferase activity in serum or on RBCs.ABO genotyping was BO2,and gene sequencing result confirmed as Bel01/O02.Exon 1~7 sequencing analysis revealed that the sample has contained an 16 C>T and18 insTTGCA mutations on basis of B101/O02,which was the first discovery.Conclusion:Identification of ABO subtype requires serological methods combined with genotyping and gene sequencing.