Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia

Soad Al-Jaouni 1, * Jummanah Jarullah 1 Essam Azhar 2 Kamran Moradkhani 3, 4
* Auteur correspondant
1 Hematology Research Lab
2 Medical Molecular Virology Unit
3 IMRB - Institut Mondor de Recherche Biomédicale
4 Service de Biochimie [Mondor]
Abstract : ABSTRACT: BACKGROUND: The development of polymerase chain reaction (PCR)-based methods for the detection of known mutations has facilitated detecting specific red blood cell (RBC) enzyme deficiencies. We carried out a study on glucose-6-phosphate dehydrogenase (G6PD) deficient subjects in Jeddah to evaluate the molecular characteristics of this enzyme deficiency and the frequency of nucleotide1311 and IVS-XI-93 polymorphisms in the glucose-6-phosphate dehydrogenase gene. RESULTS: A total of 1584 unrelated Saudis (984 neonates and 600 adults) were screened for glucose-6-phosphate dehydrogenase deficiency. The prevalence of glucose-6-phosphate dehydrogenase deficiency was 6.9% (n=110). G6PD Mediterranean mutation was observed in 98 (89.1%) cases, G6PD Aures in 11 (10.0%) cases, and G6PD Chatham in 1 (0.9%) case. None of the samples showed G6PD A mutation. Samples from 29 deficient subjects (25 males and 4 females) were examined for polymorphism. The association of two polymorphisms of exon/intron 11 (c.1311T/IVS XI 93C) was observed in 14 (42.4%) of 33 chromosomes studied. This association was found in 9 (31.0%) carriers of G6PD Mediterranean and in 4 (13.8%) carriers of G6PD Aures. CONCLUSIONS: The majority of mutations were G6PD Mediterranean, followed by G6PD Aures and <1% G6PD Chatham. We conclude that 1311T is a frequent polymorphism in subjects with G6PD Mediterranean and Aures variants in Jeddah.
Type de document :
Article dans une revue
BMC Research Notes, BioMed Central, 2011, 4 (1), pp.436. 〈10.1186/1756-0500-4-436〉
Liste complète des métadonnées

Littérature citée [22 références]  Voir  Masquer  Télécharger
http://www.hal.inserm.fr/inserm-00638059
Contributeur : Ed. Bmc <>
Soumis le : jeudi 3 novembre 2011 - 17:08:39
Dernière modification le : dimanche 19 novembre 2017 - 01:18:46
Document(s) archivé(s) le : jeudi 15 novembre 2012 - 11:05:16

Fichiers

1756-0500-4-436.pdf
Fichiers éditeurs autorisés sur une archive ouverte

Identifiants

Collections

IMRB | UPEC | UPEC-UPEM

Citation

Soad Al-Jaouni, Jummanah Jarullah, Essam Azhar, Kamran Moradkhani. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia. BMC Research Notes, BioMed Central, 2011, 4 (1), pp.436. 〈10.1186/1756-0500-4-436〉. 〈inserm-00638059〉

Exporter

BibTeX TEI DC DCterms EndNote

Partager

Métriques

Consultations de la notice

285

Téléchargements de fichiers

201

Contact

support.ccsd.cnrs.fr
hal.support@ccsd.cnrs.fr
Logo CCSD