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Confirmation of linkage of oculopharyngel muscular dystrophy to chromosome 14q 11.2‐q13
Author(s) -
Stajich Jeffrey M.,
Len Felicia,
Lee Arnold,
Yamaoka Larry,
Helms Barbara,
Gaskell Perry C.,
Roses Allen D.,
Vance Jeffrey M.,
PericakVance Margaret A.,
Gilchrist James M.,
Donald Lauren
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410400519
Subject(s) - oculopharyngeal muscular dystrophy , haplotype , genetics , genetic linkage , muscular dystrophy , founder effect , dysphagia , population , linkage (software) , allele , medicine , biology , gene , surgery , environmental health
Oculopharyngeal muscular dystrophy is a late‐onset, autosomally dominant disorder characterized by progressive ptosis, 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.