Related Experiment Video
Updated: May 3, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Study on a 905A to G mutation of α 1,3 galactosyltransferase gene]
Fengqiu Lin1, Xu Zhang, Jianping Li
1Liaoning Blood Center, Shenyang, Liaoning 110044, P.R.China. ljp_63@yahoo.com.
Objective:
To study the effect of 905A to G mutation of α -1,3 galactosyltransferase of ABO gene on B antigen expression.
Methods:
Three samples were diagnosed as B subgroup by serological test. Genotyping and sequencing were performed with polymerase chain reaction-sequence specific primer (PCR-SSP), direct sequencing and gene dones of exons 6 and 7 of the ABO locus.
Results:
The sequence of B allele has differed from that of regular B101 allele with a 905A to G missense mutation in exon 7, which resulted in an amino acid substitution (D302G) in all of the three B subgroup samples.
Conclusion:
905A to G mutation can reduce the expression of B antigen.
More Related Videos
11:57Saccharomyces cerevisiae Models of Alzheimer's Disease to Screen Genes, Mutations, and Chemicals Affecting Amyloid Beta Production by γ-Secretase
Published on: June 24, 2025
05:48Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
Published on: March 16, 2022
Related Concept Videos
01:27Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase