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Journal articles
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia
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.
Cited literature [22 references]
https://www.hal.inserm.fr/inserm-00638059
Contributor : Ed. Bmc Connect in order to contact the contributor
Submitted on : Thursday, November 3, 2011 - 5:08:39 PM
Last modification on : Tuesday, October 19, 2021 - 4:09:22 PM
Long-term archiving on: : Thursday, November 15, 2012 - 11:05:16 AM
Contributor : Ed. Bmc Connect in order to contact the contributor
Submitted on : Thursday, November 3, 2011 - 5:08:39 PM
Last modification on : Tuesday, October 19, 2021 - 4:09:22 PM
Long-term archiving on: : Thursday, November 15, 2012 - 11:05:16 AM