title: Molecular study in von Recklinghausen neurofibromatosis (NF1).
abstract: The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified in this region. We have performed a genetic analysis using an anonymous DNA marker, HHH202 (D17S33), tightly linked to the NF1 gene in seven NF1 Italian families. Only one family was fully informative for the HHH202/RsaI polymorphism. In this family this marker can be used for presymptomatic and prenatal diagnosis. However, it is necessary to use additional flanking markers in order to increase informativeness and to obtain better diagnostic accuracy.
authors.affiliation: Istituto di Clinica Pediatrica, Università degli Studi di Siena, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Vivarelli
authors.forename: G
authors.initials: G
authors.lastname: Bartalini
authors.forename: L
authors.initials: L
authors.lastname: Calistri
authors.forename: P
authors.initials: P
authors.lastname: Balestri
authors.forename: A
authors.initials: A
authors.lastname: Figus
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: A
authors.initials: A
authors.lastname: Fois
mesh_terms: D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers