title: A discordant sibship analysis between beta-NGF and neurofibromatosis.
abstract: A new restriction fragment length polymorphism 5' to the beta-nerve growth factor (beta-NGF) gene has been found in proximity to the BglII polymorphism, and both polymorphisms are detectable with an EcoRI 7-kilobase (kb) subclone. Absence of the TaqI recognition site lengthens the 4.3-kb and 1.7-kb hybridizing fragments to 6 kb, and the alleles are in Hardy-Weinberg equilibrium with frequencies of 83% and 17%, respectively. Previous research has suggested that NGF is involved in disseminated neurofibromatosis (NF). We found four informative disseminated NF families with the two beta-NGF polymorphisms and have provided clearcut evidence against beta-NGF gene alteration in these families. If disseminated NF is found to be heterogeneous at a molecular level, more families should be tested to further rule out any role for beta-NGF in this syndrome.
authors.forename: J K
authors.initials: JK
authors.lastname: Darby
authors.forename: J
authors.initials: J
authors.lastname: Feder
authors.forename: M
authors.initials: M
authors.lastname: Selby
authors.forename: V
authors.initials: V
authors.lastname: Riccardi
authors.forename: R
authors.initials: R
authors.lastname: Ferrell
authors.forename: D
authors.initials: D
authors.lastname: Siao
authors.forename: K
authors.initials: K
authors.lastname: Goslin
authors.forename: W
authors.initials: W
authors.lastname: Rutter
authors.forename: E M
authors.initials: EM
authors.lastname: Shooter
authors.forename: L L
authors.initials: LL
authors.lastname: Cavalli-Sforza
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005260:Female; D005819:Genetic Markers; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D009414:Nerve Growth Factors / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers; D009414:Nerve Growth Factors; D004262:DNA Restriction Enzymes