Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Different Ethnic Groups of Blood Donors in Mauritania.
G6PD
Mauritania
PCR-RFLP
multiplex PCR
mutation
Journal
Frontiers in bioscience (Scholar edition)
ISSN: 1945-0524
Titre abrégé: Front Biosci (Schol Ed)
Pays: Singapore
ID NLM: 101485241
Informations de publication
Date de publication:
25 Sep 2023
25 Sep 2023
Historique:
received:
06
06
2023
revised:
18
07
2023
accepted:
17
08
2023
medline:
1
11
2023
pubmed:
9
10
2023
entrez:
8
10
2023
Statut:
ppublish
Résumé
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most frequent enzymopathy worldwide; it is a genetic disorder that affects red blood cells and causes hemolysis. Here, we conducted a study on G6PD-deficient subjects in Mauritania to evaluate the molecular characteristics associated with a deficiency in this enzyme and the frequency of nucleotide polymorphisms in the glucose-6-phosphate dehydrogenase gene. A total of 943 blood samples were collected from blood donors (803 males and 140 females; 364 white Moors; 439 black Moors; 112 Pulaar; 18 Wolof; 10 Soninke). All blood samples were analyzed using a rapid screening test. G6PD status was analyzed quantitatively by the Randox G6PD test. Samples deficient in G6PD were extracted from the whole blood samples and subjected to DNA genotyping. The most frequent G6PD variants were determined by two molecular techniques: restriction fragment length polymorphism (RFLP) and multiplex PCR using the GENESPARK G6PD African kit. A total of six single nucleotide polymorphisms (SNPs) ( The prevalence of G6PD deficiency in this population sample was 8.1%. The most common mutation was This study shows, for the first time, the presence of the
Sections du résumé
BACKGROUND
BACKGROUND
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most frequent enzymopathy worldwide; it is a genetic disorder that affects red blood cells and causes hemolysis. Here, we conducted a study on G6PD-deficient subjects in Mauritania to evaluate the molecular characteristics associated with a deficiency in this enzyme and the frequency of nucleotide polymorphisms in the glucose-6-phosphate dehydrogenase gene.
METHOD AND MATERIALS
METHODS
A total of 943 blood samples were collected from blood donors (803 males and 140 females; 364 white Moors; 439 black Moors; 112 Pulaar; 18 Wolof; 10 Soninke). All blood samples were analyzed using a rapid screening test. G6PD status was analyzed quantitatively by the Randox G6PD test. Samples deficient in G6PD were extracted from the whole blood samples and subjected to DNA genotyping. The most frequent G6PD variants were determined by two molecular techniques: restriction fragment length polymorphism (RFLP) and multiplex PCR using the GENESPARK G6PD African kit. A total of six single nucleotide polymorphisms (SNPs) (
RESULTS
RESULTS
The prevalence of G6PD deficiency in this population sample was 8.1%. The most common mutation was
CONCLUSIONS
CONCLUSIONS
This study shows, for the first time, the presence of the
Identifiants
pubmed: 37806950
pii: S1945-0516(23)00086-2
doi: 10.31083/j.fbs1503011
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
11Informations de copyright
© 2023 The Author(s). Published by IMR Press.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.