title: Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia.
abstract: Screening of G6PD deficiency was carried out on 79 unrelated subjects (32 females and 47 males), all coming from out consultation. DNA from deficient subject (11 females and 30 males) was analyzed for the presence of G6PD mutation. Known mutations were studied by the appropriate restriction enzyme digestion of fragment amplified by PCR. Where the mutation could not be identified in this way, the samples were subjected to SSCP analysis and abnormal fragments were sequenced. Through these methods, seven different mutations have been identified. Among deficient females, eight had the African variant A-(tow of them were homozygous) and three had the Mediterranean variant, one of them was homozygous and have had a haemolytic crisis after ingestion of fava beans showing at birth manifestation of neonatal jaundice. Among deficient males, four were hospitalized and transfused after a haemolytic crisis due to ingestion of fava beans. All of them have had manifestation of neonatal jaundice. Of them, one carried the Mediterranean variant and three others had the African variant A-. Among the remaining deficient males, 15 had A-variant, two had the Aurès mutation. SSCP analysis of nine mild deficient males, revealed the presence of the association of 1311 CT/93 TC in two subjects, a newly described silent mutation in the exon 12 associated with the polymorphism in the intron 11 93 TC in one subject and tow single intronic base deletion. The first is IVS V 17 (-C) found in two subjects and the second is IVS VIII 43 (-G) encountered in four subjects.
authors.affiliation: Laboratoire d'hématologie moléculaire et cellulaire Institut Pasteur de Tunis, 13, place Pasteur, BP 74, 1002 Tunis-Le-Belvédère, Tunisia.
authors.forename: B Ben
authors.initials: BB
authors.lastname: Daoud
authors.forename: I
authors.initials: I
authors.lastname: Mosbehi
authors.forename: C
authors.initials: C
authors.lastname: Préhu
authors.forename: D
authors.initials: D
authors.lastname: Chaouachi
authors.forename: R
authors.initials: R
authors.lastname: Hafsia
authors.forename: S
authors.initials: S
authors.lastname: Abbes
mesh_terms: D004252:DNA Mutational Analysis; D004912:Erythrocytes / Q000201:enzymology*; D005091:Exons / Q000235:genetics; D005236:Favism / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D014416:Tunisia / Q000453:epidemiology
chemical_list: D005954:Glucosephosphate Dehydrogenase