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 language | English |
|---|---|
| Pages (from-to) | 801-804 |
| Number of pages | 4 |
| Journal | Annals of Neurology |
| Volume | 40 |
| Issue number | 5 |
| State | Published - Nov 1 1996 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
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 journal › Article
}
TY - JOUR
T1 - Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13
AU - Stajich, Jeffrey M.
AU - Gilchrist, James M.
AU - Lennon, Felicia
AU - Lee, Arnold
AU - Yamaoka, Larry
AU - Helms, Barbara
AU - Gaskell, Perry C.
AU - Donald, Lauren
AU - Roses, Allen D.
AU - Vance, Jeffery M
AU - Pericak-Vance, Margaret A
PY - 1996/11/1
Y1 - 1996/11/1
N2 - 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.
AB - 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.
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M3 - Article
C2 - 8957024
AN - SCOPUS:10544219602
VL - 40
SP - 801
EP - 804
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 5
ER -