Molecular Mechanism and family research of a pedigree with B(A).06 subtype

VernacularTitle: 一例B(A).06亚型的分子机制及家系研究
Author: Wenyan CUI ¹ ; Wei WU ; Shuang YANG ; Qianqian SONG ; Weiwei MENG ; Yi ZHANG ; Yali WANG ; Qianmeng HAO ; Yong LI ; Mengyang ZHOU ; Zhenqing ZHANG ; Yulin ZHANG
Author Information

1. Department of Blood Transfusion, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China
Publication Type:Clinical Trail
Keywords: B(A).06 blood type; Serological blood type; Molecular mechanism; Family study
From: Chinese Journal of Medical Genetics 2019;36(12):1226-1229
CountryChina
Language:Chinese
Abstract: Objective:To explore the serological and genotypic characteristics of a pedigree with B(A).06 subtype.
Methods:Serological methods was used to identify the ABO phenotypes. Exons 6 and 7 of the ABO gene and flanking regions were subjected to direct sequencing and TA clonal sequencing in order to determine the genotype of individuals with inconsistent results for forward and reverse serological typing.
Results:Among 12 individuals from 4 generations, 5 were identified with a AwB phenotype, along with a c. 803C>G mutation in exon 7 of the B allele, which was named as B(A).06. The B(A).06/O.01.01 phenotype may be easily missed due to its weak anti-A antibody in the serum upon initial serological test.
Conclusion:A B(A).06 subtype family was identified. The serological phenotype of individuals carrying the B(A).06 allele may be affected by the opposite DNA strand.