1. 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
- Author
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Franco Ajmar, Emilia Bellone, Gianluigi Mancardi, Paola Mandich, Michele Abbruzzese, Garth A. Nicholson, and Angelo Schenone
- 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 - 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.
- Published
- 1996