title: Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection.
abstract: Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. Point mutations are evidenced in about 50% of the NF2 patients and large genomic deletions account for approximately 33% of the NF2 gene alterations. To facilitate the deletion screening, 16 polymorphic markers were identified in the NF2 genomic sequence enabling an hemizygosity test in familial studies.
authors.affiliation: Laboratoire de Génétique des Tumeurs, Fondation Jean Dausset/CEPH, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Legoix
authors.forename: M F
authors.initials: MF
authors.lastname: Legrand
authors.forename: E
authors.initials: E
authors.lastname: Ollagnon
authors.forename: G
authors.initials: G
authors.lastname: Lenoir
authors.forename: G
authors.initials: G
authors.lastname: Thomas
authors.forename: J
authors.initials: J
authors.lastname: Zucman-Rossi
mesh_terms: D017931:DNA Primers; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D016518:Neurofibromatosis 2 / Q000235:genetics*; D025581:Neurofibromin 2; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D008565:Membrane Proteins; D025581:Neurofibromin 2