Identification of a recombination event narrowing the Lafora disease gene region

L. O. Maddox, M. Descartes, J. Collins, J. Keating, Steven Rosenfeld, C. Palmer, A. J. Carroll, R. Kuzniecky

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Patients affected with progressive myoclonus epilepsy of the Lafora type present during late adolescence with a characteristic EEG pattern and Lafora bodies seen on skin biopsy. The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers D6S292 and D6S420. This study for linkage of markers from the candidate gene region was performed in a previously unpublished family affected with Lafora disease. EEG and skin biopsy evaluation for Lafora bodies were performed on five of eight family members followed for seizure activity. Haplotype and linkage analysis of DNA from five family members were carried out using the nine dinucleotide repeat markers reported in the common region of homozygosity by Serratosa et al in 1995. The present study of an additional family affected by Lafora disease has narrowed the 17 cM critical region for the Lafora disease gene on chromosome 6q24 to a 4 cM region flanked by markers D6S308 and D6S311.

Original languageEnglish (US)
Pages (from-to)590-591
Number of pages2
JournalJournal of Medical Genetics
Volume34
Issue number7
StatePublished - Aug 9 1997
Externally publishedYes

Fingerprint

Lafora Disease
Genetic Recombination
Dinucleotide Repeats
Genes
Electroencephalography
Chromosomes
Biopsy
Skin
Haplotypes
Seizures
DNA

Keywords

  • Chromosome 6
  • Epilepsy
  • Gene linkage
  • Lafora disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Maddox, L. O., Descartes, M., Collins, J., Keating, J., Rosenfeld, S., Palmer, C., ... Kuzniecky, R. (1997). Identification of a recombination event narrowing the Lafora disease gene region. Journal of Medical Genetics, 34(7), 590-591.

Identification of a recombination event narrowing the Lafora disease gene region. / Maddox, L. O.; Descartes, M.; Collins, J.; Keating, J.; Rosenfeld, Steven; Palmer, C.; Carroll, A. J.; Kuzniecky, R.

In: Journal of Medical Genetics, Vol. 34, No. 7, 09.08.1997, p. 590-591.

Research output: Contribution to journalArticle

Maddox, LO, Descartes, M, Collins, J, Keating, J, Rosenfeld, S, Palmer, C, Carroll, AJ & Kuzniecky, R 1997, 'Identification of a recombination event narrowing the Lafora disease gene region', Journal of Medical Genetics, vol. 34, no. 7, pp. 590-591.
Maddox LO, Descartes M, Collins J, Keating J, Rosenfeld S, Palmer C et al. Identification of a recombination event narrowing the Lafora disease gene region. Journal of Medical Genetics. 1997 Aug 9;34(7):590-591.
Maddox, L. O. ; Descartes, M. ; Collins, J. ; Keating, J. ; Rosenfeld, Steven ; Palmer, C. ; Carroll, A. J. ; Kuzniecky, R. / Identification of a recombination event narrowing the Lafora disease gene region. In: Journal of Medical Genetics. 1997 ; Vol. 34, No. 7. pp. 590-591.
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