Molecular mechanism for a case with ABO subtype Bx10/O01.
- VernacularTitle:一例ABO亚型Bx10/O01的分子机制研究
- Author:
Liang YANG
1
;
Yong DU
;
Chuanliang MEI
;
Wei LIANG
Author Information
- Publication Type:Case Reports
- MeSH: ABO Blood-Group System; genetics; Alleles; Base Sequence; Genotype; Humans; Male; Young Adult
- From: Chinese Journal of Medical Genetics 2017;34(3):431-434
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the molecular mechanism of a case with ABO subtype Bx10/O01.
METHODSThe serological phenotype of the proband was determined with a conventional method, and the ABO genotype was determined by sequence-specific primer polymerase chain reaction (PCR-SSP). Exons 6 and 7 of the ABO gene were amplified with PCR and sequenced. The samples were collected from both parents and analyzed.
RESULTSThe proband's erythrocytes were detected with B antigens, along with the presence of anti-B in serum and absence of B substance in saliva. The genotype B/O of the proband was identified by PCR-SSP. Direct sequencing of the proband revealed 261delG/G, 297A/G in exon 6 and 526C/G, 657C/T, 703A/G, 796C/A, 803C/G, 829G/T, 930A/G heterozygote in exon 7, which was assigned as Bx10/O01 genotype. The Bx10 allele of the proband was inherited from his mother.
CONCLUSIONThe G to T mutation at position 829 of α -1,3-galactosyltransferase enzyme gene has resulted in the Bx10 phenotype.
