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    Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
    (2020) Atik, Tahir; Evim, Melike Sezgin; Işık, Esra; Baytan, Birol; Albayrak, Canan Uçar; Küpesiz, Alphan; Keskin, Ebru Yılmaz
    Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8)gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey, and then to establish a phenotype-genotype correlation.Materials and Methods: All HA cases (270 patients) analyzed molecularly in the Ege University Pediatric Genetics Molecular Laboratory between March 2017 and March 2018 were included in this study. To identify intron 22 inversion (Inv22), intron 1 inversion (Inv1), small deletion/insertions, and point mutations, molecular analyses of F8 were performed using a sequential application of molecular techniques. Results: The mutation detection success rate was 95.2%. Positive Inv22 was found in 106 patients (39.3%), Inv1 was found in 4 patients (1.5%), and 106 different disease-causing sequence variants were identified in 137 patients (50.6%). In 10 patients (3.7%), amplification failures involving one or more exonic regions, considered to be large intragenic deletions, were identified. Of 106 different F8 mutations, 36 were novel. The relationship between F8 genotype and inhibitor development was considered significant.Conclusion: A high mutation detection rate was achieved via the broad molecular techniques applied in this study, including 36 novel mutations. With regard to mutation types, mutation distribution and their impact on clinical severity and inhibitor development were found to be similar to those previously reported in other hemophilia population studies.
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    Investigation of Alpha Globin Gene Mutations byComplementary Methods in Antalya
    (2021) Bilgen, Türker; Arıkan, Yunus; Küpesiz, Alphan; Canatan, Duran; Keser, Ibrahim; Mercan, Tuğba Karaman
    Alpha (?) thalassemia is one of the hemoglobinopaties that is inherited by autosomal recessive mode. It is caused by mutations on alpha-1 and alpha-2 globin genes. Deletional type mutations of globin genes have commonly been seen in alpha thalassemias. While small deletional mutations such as -3.7 cause ?+-thalassemia, large deletions such as -26.5 -20.5 cause ?0-thalassemia. The objective of our study was to determine the profile of deletional and non-deletional ?-globin gene mutations in the Antalya population, Turkey.In present study, the presence of ?-thalassemia mutations were investigated by RDBH (reverse dot blot hybridization) among 250 patients with microcytic anemia and beta globin normal. Some positive and negative cases were confirmed by MLPA (multiplex ligation dependent probe amplification) and at the latest DNA sequencing. Eight different mutations were determined in 112 (44.8%) of patients in our study. The -??3.7 deletion was the most common mutation(73.3%). Others common mutations were the – ? 20.5 (13.0%) and –MED (6.5%), --FIL (2.4%), Hb Adana (2.4%). The 97.5 % of total mutations consisted of these five mutations. Three patients with Hb H disease were found related with - ? 3.7 /-(?) -20.5 genotype. One patient (2.04%) had the ??? anti-3.7 gene triplication. Two rare mutations, ?2 codon 64 (G>C) (Hb Fontainebleau) and ?2 codon 193 (G>A) (Hb G- Waimanalo), were determined by DNA sequencing firstly in Antalya Province, Turkey.Our results may be valuable to give accurate premarital genetic counseling and to apply classical prenatal and preimplantation genetic diagnosis by the complementary methods such as RDBH, MLPA and DNA sequencing for the screening of alpha thalassemia carriers.