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Öğe ?-Globin Gene Mutations in Pediatric Patients with ?-Thalassemia in the Region of Cukurova, Turkey(Taylor & Francis Ltd, 2020) Guzelgul, Figen; Seydel, G. Seyda; Aksoy, Kiymetbeta-Thalassemia (beta-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of beta-thal at the molecular level in pediatric beta-thal patients in the cukurova region. The beta-thal mutations of 52 cases were analyzed. An automated blood cell counter was used for hematological data. Cellulose acetate electrophoresis and high performance liquid chromatography (HPLC) methods were used for hemoglobin (Hb) typing. Amplification refractory mutation system (ARMS), restriction fragment length polymorphism (RFLP), gap-polymerase chain reaction (gap-PCR) and DNA sequencing analysis methods were used to determine genomic features. In this study, we found that 36 subjects carried homozygous mutations [IVS-I-110 (G>A) (HBB: c.93-21G>A) (58.3%), codon 8 (-AA)(HBB: c.25_26delAA) (5.6%), -30 (T>A) (HBB: c.-80T>A) (5.6%), IVS-I-6 (T>C) (HBB: c.92+6T>C) (5.6%) and IVS-II-1 (G>A) (HBB: c.315+1G>A) (5.6%)]. We found that 13 subjects carried compound heterozygosities for IVS-I-110/IVS-I-6 (15.4%) and IVS-I-110/frameshift codon (FSC) 44 (-C) (HBB: c.135delC) (15.4%). We observed that the Syrian subject also carried a compound heterozygosity for IVS-I-6/IVS-I-25 (-25 bp) (HBB: c.93_21del). We determined that the most frequently observed beta-thal mutation in the cukurova region, where various types of hemoglobinopathies have been observed, is the IVS-I-110 mutation. As the prevalence of the disease will affect the region where the immigrant population is dense, population screening and prenatal diagnosis (PND) should be increased and the public should be made aware of the consequences.Öğe Investigation of miR-144-3p expression levels in HbSS cases with high and normal HbF(Walter De Gruyter Gmbh, 2021) Guzelgul, Figen; Seydel, Gonul Seyda; Alparslan, Zeliha Nazan; Aksoy, KiymetBackground: Sickle 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 methods: In 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). Results: The 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). Discussion: In our study, the increase in the miR-144-3p levels in low HbF levels may be associated with the severity of the disease. Conclusion: Considering these results, suppressing miR144-3p may be considered as a new treatment option in HbSS.Öğe The effect of hemoglobin variants on high-performance liquid chromatography measurements of glycated hemoglobin(Kare Publishing, 2021) Seydel, Gonul Seyda; Guzelgul, FigenObjectives: Glycated hemoglobin (HbA1c) is routinely utilized to monitor long-term glycemic control. The presence of hemoglobin (Hb) variants may lead to a false HbA1c measurement. This study was an investigation of the effects of both common and rare Hb variants on the level of HbA1c measured with high-performance liquid chromatography (HPLC). Methods
