Molecular Basis of beta-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation
Makaleler > Tam Makale · 2015
Yazarlar: Feriştah Ferda ÖZKINAY, HÜSEYİN ONAY, Emin KARACA, Esra ARSLAN, Biray ERTÜRK, Aslı ECE SOLMAZ, Ismihan Merve TEKIN, Muhsin Özgür ÇOĞULU, Yeşim AYDINOK, Canan VERGIN
HEMOGLOBIN, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2015, cilt 39, ss 230-234
DOI: 10.3109/03630269.2015.1038354
Özet
beta-Thalassemia (beta-thal) is the most common monogenic disorder in Turkey. The aim of this study was to investigate the spectrum of beta-thal mutations in the Aegean region of Turkey. The data was derived from 1171 unrelated beta-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 beta-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 beta-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 beta-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey.