USING THE FULL POWER OF LINKAGE ANALYSIS IN 11 FRENCH-CANADIAN FAMILIES TO FINE MAP THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY GENE

Citation
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
Citations number
22
Categorie Soggetti
Neurosciences,"Clinical Neurology
Journal title
ISSN journal
09608966
Volume
7
Year of publication
1997
Supplement
1
Pages
70 - 74
Database
ISI
SICI code
0960-8966(1997)7:<70:UTFPOL>2.0.ZU;2-I
Abstract
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.