Abstract
Neurofibromatosis type 1 of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, cafe-au-lait spots and Lisch nodules of the iris. The high mutation rate at the neurofibromatosis type 1 locus results in a wide range of molecular abnormalities. We have screened seven different exons of the neurofibromatosis type 1 gene, including those codifying for the GAP-related domain, using the RNA-Single Strand Conformation Polymorphism (RNA-SSCP) method in a series of 59 neurofibromatosis type 1 patients. We have also analyzed four intragenic repeats and one RFLP to detect hemizygosity and evaluate informativeness in at-risk families. One deletion and a new intronic normal variant have been detected. Thus the majority of Neurofibromatosis type 1 chromosomes have not been characterized, confirming difficulty in providing proper genetic counselling in neurofibromatosis type 1 families, even following extensive DNA analysis.
Original language | English |
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Pages (from-to) | 281-284 |
Number of pages | 4 |
Journal | Clinical Genetics |
Volume | 47 |
Issue number | 6 |
Publication status | Published - 1995 |
Keywords
- Microsatellites
- Mutations
- Neurofibromatosis type 1
- RNA-SSCP
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)