title: Genetic heterogeneity of beta-thalassemia at Cukurova in southern Turkey.
abstract: Beta-thalassemia is the most common genetic abnormality causing health problems worldwide. Cukurova, in the southern part of Turkey, being on the Mediterranean, is in the thalassemic belt. Since there is no cure for the disease at present, the frequency of the mutation types of beta-thalassemia must first be identified to aid in clinical follow-up and prenatal diagnosis. Carriers identified during a screening survey and patients referred to our laboratory were studied for this purpose. After routine hematological analysis molecular screening was performed by the amplification refractory mutation system and DNA sequencing. The frequency of the common mutations were: IVS-I-110 (G-->A) 57.3%, IVS-I-1 (G-->A) 8.3%, codon 39 (C-->T) 6.4%, IVS-I-6 (T-->C) 5.7%, frameshift codon 8 (-AA) 5.7%, -30 (T-->A) 4.7%, IVS-II-1 (G-->A) 3.4%, IVS-II-745 (G-->C) 2.8%, and frameshift codon 5 (-CT) 1.1%. Some rare mutations (1%) such as frameshift codon 44 (-C) 0.7%, frameshift codons 74/75 (-C) 0.7%, IVS-1-5 (G-->C) 0.7%, frameshift codons 8/9 (+G) 0.4%, frameshift codons 36/37 (-T) 0.4%, frameshift codons 22/23/24 (-AAGTTGG) 0.4%, IVS-1-130 (G-->C) 0.4%, IVS-1-5 (G-->T) 0.2%, -28 (A-->C) 0.2%, codon 15 (TGG-->TGA) 0.2%, and frameshift codons 82/83 (-G) 0.2%, were detected by sequence analysis. The codon 15 (TGG-->TGA) and frameshift codons 82/83 (-G) mutations were seen in Turkey for the first time.
authors.affiliation: Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta 30912, USA. mcuruk@mail.mcg.edu
authors.forename: M A
authors.initials: MA
authors.lastname: Cürük
authors.forename: A
authors.initials: A
authors.lastname: Arpaci
authors.forename: G
authors.initials: G
authors.lastname: Attila
authors.forename: A
authors.initials: A
authors.lastname: Tuli
authors.forename: Y
authors.initials: Y
authors.lastname: Kilinç
authors.forename: K
authors.initials: K
authors.lastname: Aksoy
authors.forename: G T
authors.initials: GT
authors.lastname: Yüreğir
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014421:Turkey / Q000453:epidemiology; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*