A Bw12 blood type caused by 278C>T mutation of ABO gene.
- VernacularTitle:ABO基因278C>T突变导致Bw12一例
- Author:
Qing-li MENG
1
;
Yong GAO
;
Mei CHEN
;
Ying DUAN
;
Ling-zi PAN
;
Wei-jian YU
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; Base Sequence; Blood Group Antigens; genetics; Blood Grouping and Crossmatching; methods; Female; Genotype; Humans; Middle Aged; Molecular Sequence Data; Mutation
- From: Chinese Journal of Medical Genetics 2012;29(4):482-484
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the serotype and genotype of a sample with ABO blood group discrepancies.
METHODSSerotype was determined with serological method. Sequence specific primer polymerase chain reaction (SSP-PCR) was carried out based on the serotype. Sequences of exons 6 and 7 of ABO gene was analyzed by sequence-based testing (SBT).
RESULTSCompletely agglutinated A antigen, half agglutinated B antigen and weak agglutinated anti-B antibody were detected in both erythrocytes and serum, which suggested presence of a ABw serotype. An A/Bw12 genotype was revealed by B subgroup detection. Sequences of exons 6 and 7 were 278CT, 297GA and 467CT, 526CG, 657CT, 703GA, 796CA, 803GC, 930GA, respectively. The genotype fit with A102/B101 except for a nt278 C>T mutation. Blood group antigen gene mutation database (BGMUT) search has confirmed the mutant allele to be Bw12.
CONCLUSIONAn A102/Bw12 genotype has been found in the Chinese population.
