PP119. A RARE WORLDWIDE MUTATION WAS ADDED TO THE MUTATIONAL SPECTRUM OF ß GLOBIN GENE IN THE ROMANIAN POPULATION
Laudy Cherry1, LETITIA DAN1, Rodica Talmaci1, Daniel Coriu2, Cimponeriu Danut1, Pompilia Apostol1, Dana Usurelu1, Lucian Gavrila1 1 Human Genetics Department, Genetics Institute of Bucharest University 2 Hematology Department, Fundeni Clinical Institute, Bucharest, ROMANIA e-mail: letitia@botanic.unibuc.ro
*Corresponding Author:
page: 102

Abstract

The +22 (G-->A) in the 5' UTR of the beta-globin gene is a very rare allele found in scattered areas in/apart from Mediterranean region where the thalassemia is endemic: Azerbaijan, Bulgaria, Turkish and Italy. This mutation decreases the rate of transcription to a low degree causing a mild beta (+)-thalassemia phenotype. The same mutation was detected for the first time in Romania where the thalassemia is not so frequent. DGGE method was used to detect the mutation mentioned lower down. This method offered a high non radioactive power in detecting the mutations having the same pattern as a control mutation run along side and helped us to narrow down the fragment to be sequenced in case of a different pattern. A total of twelve different mutations were found till now in 66 Romanian β-thalassemic patients: (25 alleles) IVS I-110 (G-A); (12 alleles) IVS I-6 (T-C); (11 alleles) Cd 39 (C-T); (9 alleles) IVS II-745 (C-G); (7 alleles) IVS I-1 (G-A); (5 alleles) -8 7 (C-G); (4 alleles) Cd 6 (-A); (2 alleles) Cd 5 (-CT); (1 allele) +22(G-A); (1 allele) Cd8 (-AA); (1 allele) Poly A (A-G); (1 allele) Cd51 (-C). Our results further demonstrate that the majority of β-thalassemia genes are of Mediterranean origin.




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