LINKAGE OF PURE AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA TO CHROMOSOME-8 MARKERS AND EVIDENCE OF GENETIC-LOCUS HETEROGENEITY

Citation
A. Hentati et al., LINKAGE OF PURE AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA TO CHROMOSOME-8 MARKERS AND EVIDENCE OF GENETIC-LOCUS HETEROGENEITY, Human molecular genetics, 3(8), 1994, pp. 1263-1267
Citations number
13
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
3
Issue
8
Year of publication
1994
Pages
1263 - 1267
Database
ISI
SICI code
0964-6906(1994)3:8<1263:LOPARF>2.0.ZU;2-P
Abstract
'Pure' familial spastic paraplegias (FSP) are neurodegenerative disord ers that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosom al recessive (RFSP) traits. The primary defect in FSP is unknown. Gene tic linkage analysis was applied to five RFSP families from Tunisia. I n four of these five families tight linkage of the RFSP locus was esta blished to the chromosome 8 markers, D8S260, D8S166, D8S285, FLAT, and D8S279. The RFSP locus in the fifth family was not linked to these ma rkers which provided evidence of genetic locus heterogeneity in RFSF. Identification of the RFSP gene on chromosome 8 will help in understan ding the genetic factors in motor neuron degeneration.