title: Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy. More than 200 mutations in the G6PD gene have been described. In Tunisia, the A-African and the B-Mediterranean mutations predominate the mutational spectrum. The purpose of this study was to apply the amplification refractory mutation system (ARMS-PCR) to the identification of Gd A+, Gd A- and Gd B- variants in a cohort of deficient individuals and to establish a phenotype/genotype association. 90 subjects were screened for enzymatic deficiency by spectrophotometric assay. The molecular analyses were performed in a group of 50 unrelated patients. Of the 54 altered chromosomes examined, 60% had the Gd A- mutation, 18% showed the Gd B- mutation and in 20% of cases, no mutations have been identified. The ARMS-PCR showed complete concordance with the endonuclease cleavage reference method and agreed perfectly with previous Tunisian studies where Gd A- and Gd B- were the most encountered. Also, similarities in spectrum mutations with North African and Mediterranean countries suggest gene migration from Africa to Europe through Spain. In conclusion, ARMS has been introduced in this study for common G6PD alleles identification in Tunisia. It gives some advantages compared to the traditional endonuclease digestion method since it is more convenient and timesaving and also offers the possibility to be applied in mass screening surveys.
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Sabrine
authors.initials: S
authors.lastname: Haloui
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Naouel
authors.initials: N
authors.lastname: Laouini
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Chaima Abdelhafidh
authors.initials: CA
authors.lastname: Sahli
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Rim
authors.initials: R
authors.lastname: Daboubi
authors.affiliation: Hematology Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Mariem
authors.initials: M
authors.lastname: Becher
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Latifa
authors.initials: L
authors.lastname: Jouini
authors.affiliation: Department of Pediatrics "C", Children's Hospital, Tunis, Tunisia.
authors.forename: Kalthoum
authors.initials: K
authors.lastname: Kazdaghli
authors.affiliation: Department of Pediatrics "C", Children's Hospital, Tunis, Tunisia.
authors.forename: Faten
authors.initials: F
authors.lastname: Tinsa
authors.affiliation: Department of Pediatrics "C", Children's Hospital, Tunis, Tunisia.
authors.forename: Semia
authors.initials: S
authors.lastname: Cherif
authors.affiliation: Department of Pediatrics "C", Children's Hospital, Tunis, Tunisia.
authors.forename: Monia
authors.initials: M
authors.lastname: Khemiri
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Sondess Hadj
authors.initials: SH
authors.lastname: Fredj
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Rim
authors.initials: R
authors.lastname: Othmani
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Faida
authors.initials: F
authors.lastname: Ouali
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Hajer
authors.initials: H
authors.lastname: Siala
authors.affiliation: Hematology Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Nour El Houda
authors.initials: Nel H
authors.lastname: Toumi
authors.affiliation: Department of Pediatrics "C", Children's Hospital, Tunis, Tunisia.
authors.forename: Sihem
authors.initials: S
authors.lastname: Barsaoui
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Amina
authors.initials: A
authors.lastname: Bibi
authors.affiliation: Research laboratory "LR00SP03", Biochemistry Laboratory, Children's Hospital, Tunis, Tunisia.
authors.forename: Taieb
authors.initials: T
authors.lastname: Messaoud
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000379:methods*; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction / Q000379:methods*; D014416:Tunisia; D055815:Young Adult
chemical_list: D005954:Glucosephosphate Dehydrogenase
keywords: ARMS-PCR; Gd A-; Gd B-; Tunisia; glucose-6-phosphate deshydrogenase; mutations