[Study on a 905A to G mutation of α 1,3 galactosyltransferase gene]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Feb;31(1):82-4. doi: 10.3760/cma.j.issn.1003-9406.2014.01.019.
[Article in Chinese]

Abstract

Objective: To study the effect of 905A to G mutation of α -1,3 galactosyltransferase of ABO gene on B antigen expression.

Methods: Three 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.

Results: The 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.

Conclusion: 905A to G mutation can reduce the expression of B antigen.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics
  • Alleles
  • Amino Acid Substitution
  • Base Sequence
  • Female
  • Galactosyltransferases / genetics*
  • Genotype
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*

Substances

  • ABO Blood-Group System
  • Galactosyltransferases
  • N-acetyllactosaminide alpha-1,3-galactosyltransferase