Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity

A. Hentati, Margaret A Pericak-Vance, W. Y. Hung, S. Belal, N. Laing, R. M. Boustany, F. Hentati, M. Ben Hamida, T. Siddique

Research output: Contribution to journalArticle

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Abstract

'Pure' familial spastic paraplegias (FSP) are neuro-degenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to five RFSP families from Tunisia. In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, D8S285, PLAT, and D8S279. The RFSP locus in the fifth family was not linked to these markers which provided evidence of genetic locus heterogeneity in RFSP. Identification of the RFSP gene on chromosome 8 will help in understanding the genetic factors in motor neuron degeneration.

Original languageEnglish
Pages (from-to)1263-1267
Number of pages5
JournalHuman Molecular Genetics
Volume3
Issue number8
StatePublished - Aug 1 1994
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 8
Genetic Loci
Genetic Heterogeneity
Paraplegia
Chromosomes
Genetic Markers
Linkage
Chromosome
Locus
Nerve Degeneration
Tunisia
Genetic Linkage
Motor Neurons
Neurons
Linkage Analysis
Lower Extremity
Genes
Degeneration
Defects
Disorder

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. / Hentati, A.; Pericak-Vance, Margaret A; Hung, W. Y.; Belal, S.; Laing, N.; Boustany, R. M.; Hentati, F.; Ben Hamida, M.; Siddique, T.

In: Human Molecular Genetics, Vol. 3, No. 8, 01.08.1994, p. 1263-1267.

Research output: Contribution to journalArticle

Hentati, A, Pericak-Vance, MA, Hung, WY, Belal, S, Laing, N, Boustany, RM, Hentati, F, Ben Hamida, M & Siddique, T 1994, 'Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity', Human Molecular Genetics, vol. 3, no. 8, pp. 1263-1267.
Hentati, A. ; Pericak-Vance, Margaret A ; Hung, W. Y. ; Belal, S. ; Laing, N. ; Boustany, R. M. ; Hentati, F. ; Ben Hamida, M. ; Siddique, T. / Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 8. pp. 1263-1267.
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AU - Laing, N.

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