title: Neurofibromatosis-1: a maximum likelihood estimation of mutation rate.
abstract: Methods of classical segregation analysis were applied to a sample of 129 sibships with one or more individuals affected by neurofibromatosis-1 (NF-1). The sample consists only of subjects with NF-1; all the probands had been referred for genetic counselling because of café-au-lait spots, and a diagnostic protocol was invariably applied. No deviation from the segregation ratio expected for a fully penetrant Mendelian dominant gene was observed. A maximum likelihood estimate of the proportion of sporadic cases was obtained, and the mutation rate was estimated to be 6.5 x 10(-5) gametes per generation (95% CI 5.0-8.1).
authors.affiliation: Dipartimento di Pediatria, Università di Padova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Clementi
authors.forename: G
authors.initials: G
authors.lastname: Barbujani
authors.forename: L
authors.initials: L
authors.lastname: Turolla
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D016013:Likelihood Functions; D008297:Male; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*