A case of Bw39 subtype caused by 562C to T mutation of exon 7 of α -1,3-D-galactosyltransferase gene.
- Author:
Bijin WANG
1
;
Lili SHI
;
Lin WANG
;
Yanchun LIU
;
Ling MA
;
Ruoyang ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; Adult; Alleles; Amino Acid Substitution; Base Sequence; Exons; Galactosyltransferases; genetics; Humans; Male; Molecular Sequence Data; Point Mutation
- From: Chinese Journal of Medical Genetics 2017;34(3):427-430
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze a sample with ABO subgroup using serological and molecular methods.
METHODSThe ABO phenotype of the sample was determined with a tube method, and the activity of glycosyltransferases was determined with an uridine diphosphate galactose transferring method. The ABO gene of the propositus was identified by PCR with sequence-specific primers (PCR-SSP). In addition, exons 6 and 7 of the ABO gene were cloned and sequenced.
RESULTSNeither A nor B antigen was identified in the propositus, despite that its anti-B antibody was found to be attenuated. No activity of α -1, 3-D-galactosyltransferase was detected in the serum. The presence of B and O alleles were confirmed by PCR-SSP, and a novel mutation (562C to T) of the exon 7 was confirmed by sequencing, which has led to an amino acid substitution (Arg to Cys) at position 188. The genotype of the propositus was determined as Bnew/O.
CONCLUSIONA novel B allele has been identified, which was named as Bw39 by the Blood Group Antigen Gene Mutation Database (BGMUT).
