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Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients
- Publication Year :
- 1996
-
Abstract
- We describe pulsed-field gel electrophoresis (PFGE) analysis of 10 unrelated Italian families and seven isolated cases with hereditary neuropathy with liability to pressure palsies (HNPP). Our sample includes patients with different clinical features, varying from classical liability to pressure palsies to ingravescent polyneuropathy. The frequency and the uniformity in size of the 17p11.2 deletion was evaluated by using cosH1 probe from the Charcot-Marie-Tooth neuropathy type 1A (CMT1A)-REP region. The presence of the deletion was demonstrated in all our patients; furthermore, the deletion was of identical size, although our patients had different clinical features. Molecular analysis of the 17p11.2 region by PFGE method proved to be a reliable and non-invasive method of diagnosis in HNPP cases both familial and isolated.
- Subjects :
- Electrophoresis
medicine.medical_specialty
Restriction Mapping
Genetic analysis
Pulsed-Field
Gene Frequency
Pulsed-field gel electrophoresis
Medicine
Humans
Paralysis
Point Mutation
Allele frequency
Genetics
Gel
business.industry
General Neuroscience
Hybridization probe
Point mutation
medicine.disease
Dermatology
Electrophoresis, Gel, Pulsed-Field
Molecular analysis
DNA Probes, Electrophoresis
Pulsed-Field, Gene Deletion, Gene Frequency, Hereditary Sensory and Motor Neuropathy
diagnosis/genetics, Humans, Italy, Paralysis
diagnosis/genetics, Point Mutation, Restriction Mapping
Peripheral neuropathy
Italy
business
DNA Probes
Hereditary Sensory and Motor Neuropathy
Polyneuropathy
Gene Deletion
diagnosis/genetics
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....e8860a89dd344ea8de2d16b2f56042f6