REGIONAL DISTRIBUTIONS OF BETA-THALASSEMIA MUTATIONS IN TURKEY

Authors
ATALAY EO CIRAKOGLU B DINCOLC G ATALAY A KILINC Y AYTEKIN H YUREGIR GT ARPACI A BERMEK E AKSOY M
Citation
Eo. Atalay et al., REGIONAL DISTRIBUTIONS OF BETA-THALASSEMIA MUTATIONS IN TURKEY, International journal of hematology, 57(3), 1993, pp. 207-211
Citations number
NO
Categorie Soggetti
Hematology
Journal title
International journal of hematology → ACNP
ISSN journal
09255710
Volume
57
Issue
3
Year of publication
1993
Pages
207 - 211
Database
ISI
SICI code
0925-5710(1993)57:3<207:RDOBMI>2.0.ZU;2-D
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 sp ecific heterogeneity. In particular, the four mutations, IVS. 1/nt. 11 0(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%, resp ectively, were found to be distributed with rather similar frequencies also on a regional scale.