Identification of a Bw14 subtype and exploration for its molecular basis.
- Author:
Qing CHEN
1
;
Ping LI
;
Jianyu XIAO
;
Le LU
;
Yan YE
;
Shuya WANG
;
Chengyin HUANG
;
Yunlong ZHUANG
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; Exons; Genotype; Humans; Male; Middle Aged; Phenotype; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2017;34(5):755-758
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify a rare subtype of the ABO blood group system and explore its molecular basis.
METHODSBased on a standard serological assay, ABO subtype and haplotype were analyzed through PCR amplification of the 7 exons and adjacent introns of the ABO gene and TA clone sequencing.
RESULTSForward typing showed a B type, while reverse typing demonstrated an extremely weak anti-B on routine gel analysis, which indicated a forward and reverse typing discrepancy. Absorption-elution testing confirmed that there was no A antigen on the surface of patient's red blood cells. Sequencing of the ABO gene showed a G>A exchange at position 523 in exon 7, which resulted in a Val to Met substitution at codon 175. Clone sequencing of the amplificons of the ABO gene showed an ABO* Bw14/O01 heterozygote genotype.
CONCLUSIONMolecular method is useful for the identification of ambiguous blood groups. A 523G>A substitution of the ABO gene resulting in a Bw14 subtype probably underlies the weak B phenotype noted in the patient.
