title: Regional distributions of beta-thalassemia mutations in Turkey.
abstract: The distributions of twelve beta-thalassemic mutations in samples (n = 139 chromosomal samples) from four regions of Turkey were determined. The frequencies of these mutations did not reveal a notable region specific heterogeneity. In particular, the four mutations, IVS.1/nt.110(G/A), IVS.1/nt.6(T/C), IVS.1/nt.1(G/A) and nonsense codon.39(C/T), with country-scale frequencies of 35.9%, 21.6%, 13.0% and 7.2%, respectively, were found to be distributed with rather similar frequencies also on a regional scale.
authors.affiliation: Department of Biology, Marmara Research Center, Gebze, Kocaeli, Turkey.
authors.forename: E O
authors.initials: EO
authors.lastname: Atalay
authors.forename: B
authors.initials: B
authors.lastname: Cirakoğlu
authors.forename: G
authors.initials: G
authors.lastname: Dinçolç
authors.forename: A
authors.initials: A
authors.lastname: Atalay
authors.forename: Y
authors.initials: Y
authors.lastname: Kilinç
authors.forename: H
authors.initials: H
authors.lastname: Aytekin
authors.forename: G T
authors.initials: GT
authors.lastname: Yüregir
authors.forename: A
authors.initials: A
authors.lastname: Arpaci
authors.forename: E
authors.initials: E
authors.lastname: Bermek
authors.forename: M
authors.initials: M
authors.lastname: Aksoy
mesh_terms: D004252:DNA Mutational Analysis; D005914:Globins / Q000235:genetics; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D014421:Turkey / Q000453:epidemiology; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins