[Different Subtypes Caused by c.721C>T Substitution in the Exon 7 of ABO Gene].

Zhongguo Shi Yan Xue Ye Xue Za Zhi

Jiangsu Province Blood Center, Nanjing 210042, Jiangsu Province, China,Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing 211166, Jiangsu Province,

Published: December 2021


Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article 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 (1 case), B (3 cases), AB (2 cases), A or A (1 case). The result showed that the 7th exon of ABO gene was c.721C>T variety based on A1.02, B1.01, and O.01.02; the alleles were AW.43(1 case), BW.03(5 cases) and O.01.07(1 case), ABO genotypes were ABO*AW.43/O.01.02 (1 case) , ABO*BW.03/O.01.02 (3 cases), ABO*A1.02/BW.03 (2 cases), and ABO*A2.05/O.01.07 (1 case).

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 subtype antigen expression.

Download full-text PDF

Source
http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2021.06.039DOI Listing

Publication Analysis

Top Keywords

abo gene
16
c721c>t substitution
12
exon abo
12
subtypes caused
8
caused c721c>t
8
substitution exon
8
abo
8
abo subtypes
8
antigen expression
8
[different subtypes
4

Similar Publications

Breast cancer is hallmarked by phenotypic transitions enabling abnormal cell proliferation and invasion. The stress-protective transcription factor heat shock factor 2 (HSF2) is associated with cancer, but its function in breast carcinogenesis remains poorly understood. Analysis of human breast tumor samples and mouse in vivo xenografts uncovered that HSF2 expression and activity undergo dynamic changes as a function of tumor progression.

View Article and Find Full Text PDF

The COVID-19 pandemic gave insight into how host genetics influence the ability to get infected and how severe the infection will be if contracted. Among these, the HLA polymorphisms and ABO blood groups are known to influence the immune system. This study examines the correlation between HLA-B genotypes, blood groups, and the severity of COVID-19.

View Article and Find Full Text PDF

Background: COVID-19 is associated with coagulopathy and increased mortality. The ABO blood group system has been implicated in modulating susceptibility to SARS-CoV-2 infection and disease severity, but its relationship with viral RNAemia, spike gene mutations, and thrombosis remains underexplored.

Methods: We analyzed 446 hospitalized COVID-19 patients between 2021 and 2022.

View Article and Find Full Text PDF

Background: The ABO blood group system is associated with differential susceptibility to thrombotic vascular diseases. ABO is also known to be a strong trans-protein quantitative trait locus for plasma proteins involved in cell adhesion and hemostasis.

Study Design And Method: To further investigate these associations, we integrated epigenomic, genomic, and proteomic data from the Milieu Intérieur cohort.

View Article and Find Full Text PDF

F8 gene variants influence the response to desmopressin in hemophilia A carriers.

Blood

August 2025

Institut national de la santé et de la recherche médicale (Inserm), Saint-Etienne, France.

Desmopressin is often administered to correct factor VIII (FVIII) levels in female hemophilia A carriers (HAC). However, the post-desmopressin FVIII pharmacokinetic profiles have been reported only in small case series in this population. Therefore, this study analyzed the post-desmopressin FVIII and von Willebrand factor response in 361 HAC included at 14 French hemophilia treatment centers.

View Article and Find Full Text PDF