Study on a 905A to G mutation of α 1,3 galactosyltransferase gene.
- Author:
Fengqiu LIN
1
;
Xu ZHANG
;
Jianping LI
Author Information
- Publication Type:Journal Article
- MeSH: ABO Blood-Group System; genetics; Alleles; Amino Acid Substitution; Base Sequence; Female; Galactosyltransferases; genetics; Genotype; Humans; Male; Molecular Sequence Data; Mutation, Missense
- From: Chinese Journal of Medical Genetics 2014;31(1):82-84
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the effect of 905A to G mutation of α -1,3 galactosyltransferase of ABO gene on B antigen expression.
METHODSThree samples were diagnosed as B subgroup by serological test. Genotyping and sequencing were performed with polymerase chain reaction-sequence specific primer (PCR-SSP), direct sequencing and gene dones of exons 6 and 7 of the ABO locus.
RESULTSThe sequence of B allele has differed from that of regular B101 allele with a 905A to G missense mutation in exon 7, which resulted in an amino acid substitution (D302G) in all of the three B subgroup samples.
CONCLUSION905A to G mutation can reduce the expression of B antigen.
