Different Subtypes Caused by c.721C>T Substitution in the Exon 7 of ABO Gene.
10.19746/j.cnki.issn.1009-2137.2021.06.039
- Author:
Jian-Yu XIAO
1
;
Chen-Chen FENG
1
;
Tai-Xiang LIU
1
;
Li-Li SHI
1
;
Ruo-Yang ZHANG
1
;
Cheng-Yin HUANG
1
;
Qing CHEN
2
Author Information
1. Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China.
2. Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China,Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing 211166, Jiangsu Province, China,E-mail：chenqing90@yahoo.com.
- Publication Type:Journal Article
- MeSH:
ABO Blood-Group System/genetics*;
Alleles;
Exons;
Genotype;
Mutation, Missense
- From:
Journal of Experimental Hematology
2021;29(6):1917-1922
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the different subtypes caused by c.721C>T substitution in the exon 7 of the ABO gene, and to investigate the related molecular mechanism of different antigens expression.
METHODS:ABO subtypes in 7 samples were identified by standard serological methods. The exons 6, 7, and adjacent intron of ABO gene were amplified by Polymerase Chain Reaction (PCR), and the PCR products were analyzed by direct DNA sequencing and cloning sequencing.
RESULTS:ABO subtypes phenotypes were A
CONCLUSION:c.721C>T substitution in the ABO gene causes p.Arg241Trp exchange resulting in the decreasing of GTA or GTB activities and weaker antigen expression. O.01.07 is a null allele which cannot form a functional catalytic enzyme has no effect on A
