title: [Indirect diagnosis of type I neurofibromatosis using RFLP in Slovak families].
abstract: Neurofibromatosis type I clinical diagnosis confirmation as well as antenatal diagnostics of the disease are recently provided by molecular genetics. The authors analyze 17 Slovak families with multiple NFI incidence, in whom the detection of mutated gene transfer was performed using indirect diagnostics-bound with of restrictive fragments length polymorphism RFLP. With the help of PCR 7 polymorphic sequencies were amplified and subsequently broken with restrictive endonucleases localized close to the neurofibrin gene. The system informative capacity was comparable with the results of other Caucasian population studies. Although direct detection of mutation is the perspective of the diagnostics, binding analysis in informative families with multiple incidence of the disease provides reliable and cheaper possibility of NFI diagnostic on the level of DNA analysis. (Tab. 1, Fig. 3, Ref. 26.)
authors.affiliation: Centre of Medical Genetics, School of Medicine, Comenius University, Bratislava.
authors.forename: R
authors.initials: R
authors.lastname: Mezenska
authors.forename: D
authors.initials: D
authors.lastname: Durovcikova
authors.forename: R
authors.initials: R
authors.lastname: Behulova
authors.forename: M
authors.initials: M
authors.lastname: Lukacova
authors.forename: A
authors.initials: A
authors.lastname: Lozsekova
authors.forename: J
authors.initials: J
authors.lastname: Simko
mesh_terms: D006239:Haplotypes; D006801:Humans; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
vernacular_title: Nepriama diagnostika neurofibromatózy typ 1 pomocou RFLP v slovenských rodinách.