Related Experiment Video
Updated: Aug 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Glucose-6-phosphate Dehydrogenase (G6PD) A-Variant Frequency and Novel Polymorphism in Haiti
Jeanne P Vincent1,2, Alexandre V Existe3, Kanako Komaki-Yasuda1
1National Center for Global Health and Medicine, Tokyo, Japan.
Abstract:
There are scarce data about the glucose-6-phosphate dehydrogenase (G6PD) variants in Haiti to guide public health guidelines. In this study, we investigated the prevalence of the G6PD mutations related to the A- variant. We found an allelic frequency of 35.8% for the A376G mutation and of 12.2% for the G202A mutation. We also found a novel C370T mutation concomitant with the A376G mutation in one study participant. The G680T and T968C mutations were not found. The G6PD deficient variant A202 (A376G and G202A mutations) has appreciable prevalence in Haiti (16.6%), consideration is warranted when using drugs such as primaquine, which may trigger hemolytic anemia among G6PD-deficient people.
Related Concept Videos
Glucose 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:
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Glucose Homeostasis: Regulation of Blood Glucose
During fasting, when blood glucose levels are low, the pancreas secretes glucagon. it...
Translation
Translation Produces the Building Blocks of Life
Proteins are...
Genetic Variation
Genes exist in different versions called alleles,...
Biosynthesis of Polysaccharides

