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MicroRNAs (miRNA) binding to target mRNAs and having function in regulating gene expression are of 18-25 nucleotides in length and take place in the class of non-coding RNAs. Although aproximately 1900 human miRNA types have been identified so far, quite little is known about their biological functions. In some studies, it is shown that miRNA expression levels are important for many biological functions such as cell proliferation, differentiation, apoptosis and metabolism. Recent studies have pointed out that miRNAs have been used as diagnosis and prognosis biomarker in many human diseases including cancer, viral diseases, cardiovascular disorders and metabolic distrubance. Such as a miRNA type's regulating more than one mRNA expression levels, a mRNA level has been regulated by numbers of miRNA types. Since changing the expression level of a miRNA type effects the whole metabolism, it is required to have cell-specific miRNAs. In the event of cell type-specific miRNAs are having found, it is expected that the general metabolism is better understood and, moreover, miRNAs are used more effectively in diagnosis and treatment of diseases. Key words: Noncoding RNA, miRNA, Mrna ÖZET Hedef mRNA'lara bağlanarak gen ifadesinin düzenlenmesinde işlev gören mikroRNA'lar (miRNA) 18-25 nükleotit uzunluğunda olup kısa kodlanmayan RNA sınıfında yer almaktadırlar. İnsanlarda yaklaşık 1900 miRNA tipi tanımlanmış olmasına rağmen şimdiye kadar biyolojik işlevleri hakkında bilinenler oldukça azdır. Bazı çalışmalarda hücrelerin proliferasyon, farklılaşma, apoptozis ve metabolizma gibi biyolojik işlevlerdemiRNA'ların ekspresyon seviyelerinin önemli olduğu gösterilmiştir. Son zamanlardaki çalışmalarda miRNA'ların kanser, viral hastalıklar, kardiovasküler hastalıklar ve metabolik bozuklukları da içine alan birçok hastalıkta tanı ve prognozda kullanılabileceği belirtilmiştir.

To contribute to the creation of a mutation map of the region, we aimed to determine the mutation spectrum of thalassemias and abnormal hemoglobins (Hbs) in the Çukurova region and surrounding provinces. In this study, a total of 8135 samples from Adana, Hatay, Mersin, Konya and Kayseri provinces between 1993 and 2014 were analyzed. Complete blood cell (CBC) counts and Hb typing were carried out using automatic cell counters, cellulose acetate membrane electrophoresis and high performance liquid chromatography (HPLC), respectively. For the molecular analyses, genomic DNA was extracted using both manual and automated DNA extraction devices. Determination of Hb mutations were done by microarray, restriction fragment length polymorphism (RFLP), amplification refractory mutation system (ARMS) and gap-polymerase chain reaction (gap-PCR) methodologies. Samples were analyzed for abnormal Hb and thalassemia mutations. Out of 8135 samples, 1382 were observed to be carrying Hb mutations. It was identified that 826 mutation carriers included abnormal Hbs with a frequency of 59.7%, 416 carriers included β-thalassemia (β-thal) mutations with a frequency of 30.7% and 136 carriers included α-thalassemia (α-thal) mutations with a frequency of 9.9%. In this study, the most frequently observed abnormal Hb in the region was Hb S [β6(A3)Glu→Val (GTG > GAG), HBB: c.20T > A], whereas the most commonly observed mutations were the IVS-I-110 (G > A) (HBB: c.93-21G > A) point mutation in β-thal and the 3.7 kb deletion in α-thal.

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BackgroundSickle cell anemia (HbSS) is a hereditary blood disease that affects millions of people worldwide. Increased the HbF levels affects the clinical course of HbSS positively. The aim of this study was to investigate the association between miR-144-3p and HbSS.Materials and methodsIn this study 84 cases (44 HbSS/HbS combination and 40 HbAA) were performed. The expression of miR-144-3p was determined by RT-PCR. Statistical analysis was performed by the Mann-Whitney U test (SPSS 20.00 for Windows and p<0.005).ResultsThe miR-144-3p expression levels were higher in the HbSS cases (p≤0.001). Additionally, it was determined that the expression of miR-144-3p was higher in the cases with HbF<3 (p=0.043).DiscussionIn our study, the increase in the miR-144-3p levels in low HbF levels may be associated with the severity of the disease.ConclusionConsidering these results, suppressing miR-144-3p may be considered as a new treatment option in HbSS.