| Author/Editor | Leonardis, Lea | |
| Title | Molekularna genetika demielinizacijske dedne motorične in senzorične nevropatije | |
| Type | monografija | |
| Place | Ljubljana | |
| Publisher | Medicinska fakulteta | |
| Publication year | 1997 | |
| Volume | str. 54 | |
| Language | slo | |
| Abstract | Demyelinate types of hereditary motor and sensory neuropathies (HMSN1), the most common inherited neuropathies in human, are genetically rather heterogeneous. Hereditary neuropathy with liability to pressure palsies (HNPP) is genetically related to HMSN1, but phenotipically it is a rather different disorder. Most common genetic defects underlying these two disorders are dominantly inherited duplication (HMSN1A) and deletion (HNPP) on chromosome 17p11.2-12. The duplication and deletion are the result of unequal recombination of homologous DNA between repetitive elements on chromosome 17p11.2-12, mostly in 3.2 kb EcoRI/SacI "hot spot". The aim of our study was to analyse the frequency of duplication and deletion on chromosome 17p11.2-12 in HMSN1 and HNPP Slovene patients, respectively, and the frequency of unequal recombination of homologous DNA in 3.2 kb hot spot. We also sought for eventual point mutations in connexin-32 (Cx32), protein zero (Po) and on the fourth exon in peripheral myelin protein-22 (PMP22) genes. The severity of clinical presentation varies considerably between HMSN1 patients. The aim of our study was to examine the extent of clinical and electrophysiological heterogeneity of thes patients and its relation to different genotypes. According to the number of patients from the Register of neuromuscular diseases in Slovenia, we also estimated the prevalence of the diseases in Slovenia. In our study we included 117 members of 44 families: 74 HSMN1 patients from 38 families, 12 HNPP patients from 6 families, the remaining 31 being their healthy relatives. The duplication or deletion of 17p11.2-12 was found in 76% of unrelated HMSN1 and HNPP patients, respectively.(Abstract tuncated at 2000 charactes.) | |
| Descriptors | NEUROPATHIES, HEREDITARY MOTOR AND SENSORY GENE DELETION POINT MUTATION EXONS DEMYELINATING DISEASES ELECTROPHYSIOLOGY ELECTROPHORESIS, AGAR GEL DNA POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL POLYMERASE CHAIN REACTION DNA PROBES |