Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene.
Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscular dystrophy with a high prevalence in the French Canadian population. We report linkage analysis with 7 chromosome 14q polymorphic markers in 11 large French Canadian families. An observed recombination in one family establishes D14S283 as the new centromeric flanking marker, therefore reducing the previously reported candidate interval from 5cM to 2cM. The highest two-point LOD score was 26.05 at theta = 0.01 for MYH7.1. Multipoint analysis suggested that the OPMD genes lies within a 1.5cM region around D14S990. This study of large French Canadian families underlines the great power of this population to fine map disease genes.
Brais
B
B
Centre for Research in Neurosciences, McGill University, Montréal, Québec, Canada.
Bouchard
J P
JP
Gosselin
F
F
Xie
Y G
YG
Fardeau
M
M
Tomé
F M
FM
Rouleau
G A
GA
D000328:Adult; D000368:Aged; D002170:Canada; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D005192:Family Health; D005260:Female; D005602:France; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D009801:Oculomotor Muscles; D010375:Pedigree; D010609:Pharyngeal Muscles