Article
Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.
Prenatal diagnosis - 1 Feb 1995
Lazaro C, Gaona A, Ravella A, Volpini V, Estivill X
Abstract excerpt
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....
Topics
- Bayes Theorem
- DNA, Satellite
- Female
- Fetal Diseases
- Genetic Markers
- Humans
- Male
- Mutation
- Neurofibromatosis 1
- Pedigree
- Polymorphism, Restriction Fragment Length