Ael subgroup due to alpha-1,3-N-acetylgalactoseaminotransferase gene 467C>T and 804insG variants.
- Author:
Xu ZHANG
1
,
2
;
Jianping LI
Author Information
- Publication Type:Journal Article
- MeSH: ABO Blood-Group System; genetics; Alleles; Female; Humans; Male; N-Acetylgalactosaminyltransferases; genetics
- From: Chinese Journal of Medical Genetics 2016;33(4):526-529
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the effect of variants of alpha-1,3-N-acetylgalactosaminyltransferase of the ABO gene on A antigen expression.
METHODSThree samples were assayed by serological method. The extracted DNA was genotyped by sequence-specific primer polymerase chain reaction (SSP-PCR) and direct sequencing. To identify haploid of the ABO gene, clones for exons 6 and 7 of the ABO locus were analyzed.
RESULTSAll of the three samples were identified as the Ael subgroup, among which were found to carry the Ael08 and O01 alleles, while another was confirmed to harbor the Ael08 and O04 alleles. Compared with the A101 allele, two nucleotide alterations (467C>T and 804insG) at exon 7 have resulted in amino acid substitution P156L and frameshift from position 269.
CONCLUSION467C>T and 804insG variants of the alpha-1,3-N-acetylgalactosaminyltransferase gene probably underlie the Ael phenotype.
