Retrospective anslysis of patients with tuberculous meningitis to our clinic between 1997 and 2005

ABSTRACTMOLECULAR ANALYZES OF BETA-THALASSEMIA MUTATIONS ATDIYARBAKIR PROVINCEBeta thalassemia is characterized by defective beta-globin production. This geneticabnormality is one of the most common genetic abnormality worldwide and also, Turkey is inthe thalassemic belt. There is no cure for beta-thalassemia at present. Therefore, prevention ofthis diseas by prenatal diagnosis has been a major objective. For that purpose the frequency ofthe mutaion types of beta-thalassemia has needed to be identified in Diyarbakir province. Inthis study, beta-thalassemia carriers, have been detected by screening survey in order to revealthe mutation types of these carriers. Blood samples of 10038 individuals were collectedduring screening survey. Hematological parameters analyzed by routine analysis and HbA2levels were detected by HPLC. Among 10038 samples, 133 samples were evaluated as beta-thalassemia carriers. After performing PCR and Reverse Hybridization methods on thesecarriers; the frequency of the mutations were detected as follows: IVS-I-110 (G>A) 27.1%,IVS-II-1 (G>A) 10.5%, Codon 44 (-C) 9.7%, IVS-I-6 (T>C) 5.2%, Codon 8 (-AA) 5.2%,Codon 22 (7bp del) 5.2%, Codon 5 (-CT) 3.7%, -30 (T>A) 1.5%, IVS-I-1 (G>A) 0.7%, IVS-I-2 (T>A) 0.7%, Codon 8/9 (+G) 0.7%, Codon 39 (C>T) 0.7%,IVS-II-745 (C>G) 0.7% andHbS 1.5% (HbS carriers were mentioned as to be probable carriers of unknown mutations ofbeta-thalassemia as well). The frequency of unknown mutations were found 26.3%. The mostcommon mutation in Diyarbakir was found IVS-1-110 (G>A) which is also the mostcommon mutation in Turkey.Keywords: beta-Thalassemia, PCR, Mutation