Regional distributions of beta-thalassemia mutations in Turkey.
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.
Atalay
E O
EO
Department of Biology, Marmara Research Center, Gebze, Kocaeli, Turkey.
Cirakoğlu
B
B
Dinçolç
G
G
Atalay
A
A
Kilinç
Y
Y
Aytekin
H
H
Yüregir
G T
GT
Arpaci
A
A
Bermek
E
E
Aksoy
M
M
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*
D005914:Globins