title: Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.
abstract: β-Thalassemia (β-thal) is the most common monogenic disorder in Turkey. The aim of this study was to investigate the spectrum of β-thal mutations in the Aegean region of Turkey. The data was derived from 1171 unrelated β-thal subjects, detected in a regional reference hospital between November 2004 and December 2013. Screening for the 22 common mutations was performed using the polymerase chain reaction (PCR)-reverse dot-blot method, and direct automated DNA sequencing for the unknown samples. Thirty-one different β-thal alleles were identified. Seven mutations, namely IVS-I-110 (G > A) (41.7%), IVS-I-1 (G > A) (8.9%), IVS-II-745 (C > G) (8.6%), codon 8 (-AA) (7.7%), IVS-II-1 (G > A) (7.2%), IVS-I-6 (T > C) (6.6%), codon 39 (C > T) (4.6%) accounted for 85.3% of the mutated alleles. Frequencies of the remaining 24 β-thal mutations were less than 2.2%; these included one novel mutation [HBB: c.206_212del (p.Leu69Profs*19)], and four others [-56 (G > C), codon 16 (-C), IVS-I (-3) (C > T) (codon 29), codon 76 (-C)] found in Turkey for the first time. The results will help to prevent severe β-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey.
authors.affiliation: Department of Medical Genetics, Ege University Faculty of Medicine, Medical School Hospital , Bornova, Izmir , Turkey.
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Emin
authors.initials: E
authors.lastname: Karaca
authors.forename: Esra
authors.initials: E
authors.lastname: Arslan
authors.forename: Biray
authors.initials: B
authors.lastname: Erturk
authors.forename: Asli
authors.initials: A
authors.lastname: Ece Solmaz
authors.forename: Ismihan Merve
authors.initials: IM
authors.lastname: Tekin
authors.forename: Ozgur
authors.initials: O
authors.lastname: Cogulu
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Aydinok
authors.forename: Canan
authors.initials: C
authors.lastname: Vergin
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005787:Gene Frequency; D005838:Genotype; D005843:Geography; D006801:Humans; D017384:Sequence Deletion; D014421:Turkey; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: mutation spectrum; thalassemias; β-Thalassemia (β-thal); β-globin gene