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

被引：17
作者：
Al-Jaouni S.K. [1 ]
Jarullah J. [1 ]
Azhar E. [2 ]
Moradkhani K. [3 ,4 ]
机构：
[1] Hematology Research Lab, King Fahd Medical Research Centre, King Abdulaziz University, Jeddah 21589
[2] Medical Molecular Virology Unit, King Fahd Medical Research Center, King Abdulaziz University, Jeddah
[3] AP-HP, Hôpital H. Mondor-A. Chenevier, Service de Biochimie et Génétique, Créteil
[4] Inserm, U955, Créteil
来源：
BMC Research Notes | / 4卷 / 1期
关键词：
United Arab Emirate; Dehydrogenase Gene; Dehydrogenase Deficiency; Deficient Subject; Biomedical Ethical Research Committee;
D O I：
10.1186/1756-0500-4-436
中图分类号：
学科分类号：
摘要：
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. © 2011 Al-Jaouni et al; licensee BioMed Central Ltd.
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