Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13

Jeffrey M. Stajich, James M. Gilchrist, Felicia Lennon, Arnold Lee, Larry Yamaoka, Barbara Helms, Perry C. Gaskell, Lauren Donald, Allen D. Roses, Jeffery M Vance, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive prosis, dysphagia, and extremity weakness. Linkage of oculopharyngeal muscular dystrophy to 14q11.2-q13 has been reported in a series of French Canadian families. Haplotype analysis in these data shows a single segregating disease chromosome, suggesting a founder effect in this population. We ascertained and sampled for linkage studies 5 multigenerational American families with oculopharyngeal muscular dystrophy. Four of the 5 families have known French Canadian ancestry while the fifth is of English/Scottish origin. A peak multipoint lod score of 6.30 was obtained for the marker MYH7.1 in the families, confirming linkage to 14q11.2-q13. The English/ Scottish family exhibited a different chromosomal haplotype for the oculopharyngeal muscular dystrophy alleles than did the families of French Canadian origin. These data suggest that this family may represent a second, possibly independent mutation in this disorder.

Original languageEnglish
Pages (from-to)801-804
Number of pages4
JournalAnnals of Neurology
Volume40
Issue number5
StatePublished - Nov 1 1996
Externally publishedYes

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Oculopharyngeal Muscular Dystrophy
Chromosomes
Haplotypes
Founder Effect
Lod Score
Deglutition Disorders
Extremities
Alleles
Mutation
Population

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Stajich, J. M., Gilchrist, J. M., Lennon, F., Lee, A., Yamaoka, L., Helms, B., ... Pericak-Vance, M. A. (1996). Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. Annals of Neurology, 40(5), 801-804.

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. / Stajich, Jeffrey M.; Gilchrist, James M.; Lennon, Felicia; Lee, Arnold; Yamaoka, Larry; Helms, Barbara; Gaskell, Perry C.; Donald, Lauren; Roses, Allen D.; Vance, Jeffery M; Pericak-Vance, Margaret A.

In: Annals of Neurology, Vol. 40, No. 5, 01.11.1996, p. 801-804.

Research output: Contribution to journalArticle

Stajich, JM, Gilchrist, JM, Lennon, F, Lee, A, Yamaoka, L, Helms, B, Gaskell, PC, Donald, L, Roses, AD, Vance, JM & Pericak-Vance, MA 1996, 'Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13', Annals of Neurology, vol. 40, no. 5, pp. 801-804.
Stajich JM, Gilchrist JM, Lennon F, Lee A, Yamaoka L, Helms B et al. Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. Annals of Neurology. 1996 Nov 1;40(5):801-804.
Stajich, Jeffrey M. ; Gilchrist, James M. ; Lennon, Felicia ; Lee, Arnold ; Yamaoka, Larry ; Helms, Barbara ; Gaskell, Perry C. ; Donald, Lauren ; Roses, Allen D. ; Vance, Jeffery M ; Pericak-Vance, Margaret A. / Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. In: Annals of Neurology. 1996 ; Vol. 40, No. 5. pp. 801-804.
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