B. Brais et al., USING THE FULL POWER OF LINKAGE ANALYSIS IN 11 FRENCH-CANADIAN FAMILIES TO FINE MAP THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY GENE, Neuromuscular disorders, 7, 1997, pp. 70-74
Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal do
minant muscular dystrophy with a high prevalence in the French Canadia
n population. We report linkage analysis with 7 chromosome 14q polymor
phic markers in 11 large French Canadian families. An observed recombi
nation in one family establishes D14S283 as the new centromeric flanki
ng marker, therefore reducing the previously reported candidate interv
al 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 fin
e map disease genes. (C) 1997 Elsevier Science B.V.