Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.
作者： Edwin C. M. Mariman , Anneke A. W. M. Gabreëls-Festen , Sylvia E. C. van Beersum , Peter J. H. Jongen , Hans-Hilger Ropers
DOI: 10.1007/BF00216152
关键词: Polyneuropathy 、 Biology 、 Chromosome 17 (human) 、 Gene mapping 、 Peripheral neuropathy 、 Loss of heterozygosity 、 Genetic linkage 、 Locus (genetics) 、 Genetics 、 Hereditary motor and sensory neuropathy
摘要: Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder increased susceptibility of peripheral nerves mechanical lesions resulting in transient nerve palsies. Many carriers remain asymptomatic but can be traced by electrophysiological examination, thereby demonstrating that HNPP a generalised polyneuropathy. By using highly polymorphic markers linkage analysis was performed large family HNPP. This resulted maximum lod score 4.20 at θ=0.10 D17S520. Three-point suggests the gene for located on chromosome 17 region between D17S250 (q11.2–q12) and D17S520 (p12), has recently been shown encompass locus another hereditary neuropathy, motor sensory type 1 (HMSN 1). raises possibility this form HMSN are allelic. In keeping speculation our recent finding D17S122, marker from region, displays apparent loss heterozygosity family.
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