G6PD Aures: a new mutation (48 lle → Thr) causing mild G6PD deficiency is associated with favism

Nafa, Khédoudja; Reghis, A.; Osmani, Naima; Baghli, Lamia; Benabadji, M.; Kaplan, Jean‐Claude; Vulliamy, Thomas J.; Luzzatto, Lucio

doi:10.1093/hmg/2.1.81

Cited by 30 publications

(15 citation statements)

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“…which has recently been described in Algerians [16], was detected by Bglll diges tion in 3 subjects of Yemeni origin (table 2). On enzyme electrophoresis, all 3 had normal B mobility (table 1).…”

Section: Genotypesmentioning

confidence: 65%

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Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Al-Ain District, United Arab Emirates

et al. 1996

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In a cross-sectional study, the activity, electrophoretic mobility and genotypes of glucose-6-phosphate dehydrogenase (G6PD) were determined among healthy, UAE national school boys from Al-Ain District in the United Arab Emirates. The prevalence of G6PD deficiency in this population sample was 11%. The majority of G6PD-deficient subjects were descendants of Omani, Baluchi or Yemeni migrants. Of 18 deficient subjects, 16 had an enzyme activity of < 10% of normal while 2 had an activity of just above 10%. Electrophoresis was performed on 166 samples and showed that, apart from deficient samples, all had the normal mobility of G6PD type B. Of the 18 deficient subjects, 14 had the B type mobility of G6PD Mediterranean and 4 had the A type mobility of G6PD A-. Genotyping demonstrated that 10 had the Mediterranean mutation while 3 had the A-mutation, consistent with their electrophoretic mobility. Another 3 had the G6PD Aures mutation, recently described as polymorphic in Algeria and Spain. The mutations in the remaining 2 subjects have not yet been identified.

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Section: Genotypesmentioning

confidence: 65%

“…The Aures mutation abolishes the recognition sequence for fig/11 and thus the DNA fragment is not cut by the enzyme, confirming the presence of the mutation [16].…”

Section: A Te Ria Ls and M E Th O D Smentioning

confidence: 70%

Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Al-Ain District, United Arab Emirates

et al. 1996

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“…G6PD Aures was first described in an Algerian boy in 1993 [40], and later found to account for 7% of deficient variants in Algeria [23]. Thereafter, reports on this variant appeared from several Arab countries including Tunisia, Jordan, Kuwait, UAE and Western Saudi Arabia with frequencies of 4.5, 3.6, 3.0, 16.7 and 17% respectively [17,18,20,24,41].…”

Section: Discussionmentioning

confidence: 99%

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

et al. 2012

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Background Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. Methods A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C→T), Chatham (1003 G→A), A- (202 G→A) and Aures (143 T→C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C→T) silent mutation. Results G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%). Conclusions Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to other Asian Arab countries, neighboring Turkey and Iran.

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“…The amplification reaction was performed using 10% (v/v) dimethylsulphoxide (DMSO) with 35 cycles of 1 minute denaturation at 94°C, 1 minute annealing at 56°C, and 1 minute extension at 72°C, followed by a final extension of 7 minute at 72°C. Nucleotide sequencing of the PCR products was performed with the forward and reverse primers using the BigDye ® Terminator v3.1 Sequencing Kit (Applied BioSystems) and analyzed on an automated sequencer (ABI PRISM ® 3100 Genetic Analyzer; Applied BioSystems) [3,14,15]. …”

Section: Methodsmentioning

confidence: 99%

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

et al. 2011

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BackgroundThe 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.ResultsA 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.ConclusionsThe 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.

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G6PD Aures: a new mutation (48 lle → Thr) causing mild G6PD deficiency is associated with favism

Cited by 30 publications

References 0 publications

Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Al-Ain District, United Arab Emirates

Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Al-Ain District, United Arab Emirates

Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

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

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