Antalya ve Çevresinde Alfa Globin Gen Mutasyonlarının Araştırılması
14.ULUSAL TIBBİ BİYOLOJİ ve GENETİK KONGRESİ, Muğla, Turkey, 26 - 30 October 2015, pp.346, (Full Text)
- Publication Type: Conference Paper / Full Text
- City: Muğla
- Country: Turkey
- Page Numbers: pp.346
- Akdeniz University Affiliated: Yes
Abstract
Alpha thalassemia is a blood disorder which is charecterised by absence or diminished production of alpha globin protein. Point mutations and mostly deletions affects production of related protein differently. In order to investigate alpha globin gene mutations in Antalya region, following gDNA isolation, we performed DNA analyses for 56 cases with alpha thalassemia indication whom have been sent from AKHAV (Akdeniz Kan hastalıkları Vakfı) to department of Medical Biology and Genetics with ViennaLab α-Globin StripAssayTM kit. To research point mutations in HBA1 ve HBA2 genes we applied DNA sequencing. We found 15 mutations out of 56 cases with alpha thalassemia trait phenotype and revelaed that 2 out of 15 mutations were point mutation when 13 cases were found to be in deletional type mutation. Mutation negative cases on strip analyses in 2 different cases, HbG-Waimanalo and Hb- Fontainebleau point mutations were discovered by DNA sequencing. Deletional mutations were: 5 cases with MED, 3 cases with 20.5 kb, 3 cases with 3.7 kb gene deletion heterozygously and 2 cases with same deletion as homozygously. The most common deletional and point mutations is being determined by reversehybridization-based kit at present. According to our results MED deletion is the most prevalant alpha thalassemia mutation in Antalya region. But, lastly,alpha thalassemia mutation in Antalya region. But, lastly, DNA sequencing method should be considered in cases with clinical background when there is no mutation on strip assay. As a result, for identifying alpha-haemoglobinopathies and to give reliable genetic counselling, resolution power of the molecular tests are need to be well-evaluated