Molecular analysis of a B(A)04 phenotype individual and his family members.
- VernacularTitle:一例ABO亚型B(A)04个体及其家系成员的分子遗传学分析
- Author:
Jie ZOU
1
;
Zehui CHEN
;
Gang SHEN
Author Information
- Publication Type:Journal Article
- MeSH: ABO Blood-Group System; genetics; Adult; Alleles; Base Sequence; Exons; Genotype; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype
- From: Chinese Journal of Medical Genetics 2017;34(2):251-254
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the serological and genetic characteristics of an individual with B(A) phenotype of the ABO subtype and his family members.
METHODSSerological assaying was carried out to characterize the erythrocyte phenotype of the discrepant samples. Exons 6 and 7 of the ABO gene were amplified with PCR and subjected to direct sequencing. Exon 7 of the ABO gene was also subjected to single strand sequencing.
RESULTSThe serological results of two samples from the family were prelimilarily typed as AwB and genotyped as B(A)04/O1 by sequence-specific primer PCR (PCR-SSP). Direct and single strand sequencing confirmed that the three samples all carried a B(A)04 allele and had a nt640A>G mutation in exon 7 of the ABO gene.
CONCLUSIONThe nt640A>G mutation of the B allele has resulted in an amino acid substitution (Met214Val), which probably underlies the B(A)04 subtype. Blood samples with serological typing difficulty may be resolved by pedigree analysis using molecular methods such as PCR-SSP and DNA sequencing.
