Please use this identifier to cite or link to this item: 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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