Serological feature and molecular mechanism for a case with A307 subgroup.
10.3760/cma.j.issn.1003-9406.2020.06.020
- Author:
Xiaojun YANG
1
;
Haihua XIE
;
Jiafeng SUN
;
Xia LIN
;
Lihong LIN
;
Fawen CHEN
Author Information
1. Department of Blood Transfusion, Provincial Clinical Medical College of Fujian Medical University, Fuzhou, Fujian 350001, China. chenfawen@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(6):677-680
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the serological feature and molecular mechanism for a case with A307 subgroup of the ABO blood group system.
METHODS:Serological assay was carried out to determine the ABO blood group of the proband and his family members. Genotypes for exons 1 to 7 of the ABO gene were determined with sequence-specific primer polymerase chain reaction (SSP-PCR) and direct sequencing. The impact of the variant on the stability of alpha-1,3-N-acetylgalactosaminyltransferase (GTA) was predicted through construction of a 3D molecular model.
RESULTS:The proband, his brother and daughter were diagnosed with Aend phenotype by serological analysis. Their ABO genotype was determined as A307/O02, with heterozygous c.467C>T (p.P156L) and c.745C>T (p.R249W) variants identified in exon 7 of the ABO gene. Molecular modeling suggested that the p.R249W variant may alter the number of hydrogen bonds between the amino acids. The protein was predicted to have a decreased Δ Δ G value of thermodynamic stability.
CONCLUSION:The p.R249W variant may give rise to the A307 subgroup by reducing the stability of the GTA enzyme, leading to serological features of Aend phenotype.
