Related Experiment Video
Updated: Sep 5, 2025
Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
Published on: August 23, 2024
[Identification of a variant Bw37 allele of the ABO gene]
Wenjing Yuan1, Qianqian Chen, Jiajin Lin
1The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Zhejiang 325027, China. 184002@wzhealth.com.
Objective:
To explore the molecular basis for an individual with a rare variant of Bw37 phenotype.
Methods:
Tube agglutination testing was used to determine the ABO blood groups. Genotyping were carried out using polymerase chain reaction-sequence specific primer (PCR-SSP) and direct sequencing for exons 6 and 7 of the ABO locus.
Results:
Serologic testing of the proband showed that he was weak B for the positive ABO blood typing and B for the negative blood typing. The genotype of him was determined as B/B by PCR-SSP. DNA sequencing showed that he has harbored c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A variants, which have resulted in p.R176G, p.G235S and p.G268A substitutions. The genotypes of the proband and his mother were identified as ABO*Bw37/B101 and ABO*O.01.02/ABO*O.01.01, respectively.
Conclusion:
Serological identification combined with genotyping should be considered for the verification of ABO subtypes.
More Related Videos
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
02:20Blood Types
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
01:12The ABO Blood Group
Antigens in the ABO Blood Group System
Antigens are substances that can trigger an immune response, leading to the production of antibodies. In the ABO blood group system,...
01:10Blood Typing
Antigens are protein molecules that reside on the surface of red blood cells (RBCs). The ABO and Rh blood typing systems target...
01:15Blood Transfusion
Blood Transfusion Overview
A blood transfusion is a medical procedure used to replace blood lost due to injury, surgery, or to treat conditions such as anemia or cancer. During a transfusion, donor blood is...
01:19Rh Blood Group
02:45Blood Transfusion and Agglutination
History
The history of blood transfusion dates back to the 17th century, when early attempts were made in animals. In 1818 James Blundell, a British doctor, performed the first successful human blood transfusion. Later in 1900, Karl...