title: Detection of two rare beta-thalassemia alleles found in the Tunisian population: codon 47 (+A) and codons 106/107 (+G).
abstract: We here present the first report of the detection of two rare beta0-thalassemia (thal) mutations in the Tunisian population: codon 47 (+A) and codons 106/107 (+G). To the best of our knowledge this is the second report of the codon 47 (+A) mutation, the first being identified in a Surinamese subject. The codons 106/107 (+G) mutation was first described in American Blacks, subsequently in Egyptians and Palestinians, and now in Tunisians. These mutations were detected by denaturing gradient gel electrophoresis (DGGE) screening followed by automated nucleotide sequencing. The former was found in two related beta-thal major patients in the homozygous state, while the latter was identified in a homozygous state in a transfusion-dependent beta-thal subject and in a sickle cell beta-thal patient. Both mutations are in linkage disequilibrium with haplotype V and sequence framework 2. Given the known wide spectrum of beta-thal alleles in the Tunisian population, the present report further confirms such heterogeneity. The knowledge of an updated spectrum of beta-thal alleles in Tunisia must allow the implementation of a more efficient screening strategy for genetic counseling and prenatal diagnosis.
authors.affiliation: Laboratory of Clinical Biochemistry and Molecular Biology, Hôpital d'Enfants, Place Bab Saadoun 1007, Tunis, Tunisia.
authors.forename: Amina
authors.initials: A
authors.lastname: Bibi
authors.forename: Taieb
authors.initials: T
authors.lastname: Messaoud
authors.forename: Cherif
authors.initials: C
authors.lastname: Beldjord
authors.forename: Slaheddine
authors.initials: S
authors.lastname: Fattoum
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D016172:DNA Fingerprinting; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014416:Tunisia; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D006451:Hemoglobin, Sickle; D005914:Globins