一例B(A).06亚型的分子机制及家系研究

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

目的分析1个B(A).06亚型家系ABO血型的血清学及基因型特征.方法用血清学方法鉴定该家系的ABO血型表型,对ABO血型正、反定型不一致的5例标本ABO基因的第6、7外显子及其侧翼序列进行直接测序和TA克隆测序分析,确定其基因型.结果血清学检测和基因测序提示该家系4代12名成员中有5人为AwB表型,其B等位基因第7外显子均存在c.803C>G突变,等位基因为B(A).06.B(A).06/O.01.01亚型在血清学初检时血清中抗-A抗体很弱,容易漏检.结论鉴定了1个B(A).06亚型家系,携带B(A).06等位基因的个体的血清学表型可能受另一条DNA链的影响.

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.