title: Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.
abstract: Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.
authors.affiliation: Molecular Genetics Department, Institut de Recerca Oncològica, Hospital Duran i Reynals, Catalunya, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Lazaro
authors.forename: A
authors.initials: A
authors.lastname: Gaona
authors.forename: A
authors.initials: A
authors.lastname: Ravella
authors.forename: V
authors.initials: V
authors.lastname: Volpini
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D001499:Bayes Theorem; D004276:DNA, Satellite; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D012307:Risk Factors
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers