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https://hdl.handle.net/11499/5244
Title: | Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers | Authors: | Oguzkan, S. Cinbiş, Mine Ayter, Şükriye Anlar, Banu Aysun, Sabiha |
Keywords: | Molecular analysis Neurofibromatosis type 1 Presymptomatic diagnosis amino acid gene product messenger RNA neurofibromin Ras protein adolescent adult article autosomal dominant disorder cafe au lait spot child chromosome 17q clinical article controlled study exon family study female gene expression gene location gene mutation gene sequence genetic analysis genetic code genetic counseling genetic polymorphism human human cell iris disease male marker gene microsatellite marker neurofibroma neurofibromatosis polymerase chain reaction prenatal diagnosis relative restriction fragment length polymorphism segregation analysis signal transduction symptom Turkey (republic) Genes, Neurofibromatosis 1 Humans Microsatellite Repeats Molecular Biology Neurofibromatosis 1 Pedigree Polymerase Chain Reaction Polymorphism, Genetic Turkey |
Abstract: | Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by multiple neurofibromas, café-au-lait spots, and Lisch nodules of iris. The NF1 gene is located on chromosome 17q11.2 and encodes an 11-13 kb mRNA containing 60 exons. The NF1 gene product neurofibromin is a large protein of 2818 amino acids which acts as a negative regulator in the ras signal transduction pathway. The disease has a high mutation rate and a wide range of expression. Because of the size and complexity of the gene, the variety of mutations and the need to identify the specific mutation in each family, indirect diagnosis using linked markers has an important part in genetic counseling. We analyzed 10 Turkish families with a total of 28 affected individuals and 34 non-affected relatives using polymorphic sequences, four intragenic and five flanking markers. Intragenic microsatellite markers were highly informative for all families. As a result, prenatal and presymptomatic diagnoses for familial cases are being made available. | URI: | https://hdl.handle.net/11499/5244 | ISSN: | 0041-4301 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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