Genetic mapping and haplotype analysis of oculopharyngeal muscular dystrophy
作者:
Raji Grewal,
Rita Cantor,
Gordon Turner,
Roopinder Grewal,
Sevilla Detera-Wadleigh,
期刊:
NeuroReport
(OVID Available online 1998)
卷期:
Volume 9,
issue 6
页码: 961-965
ISSN:0959-4965
年代: 1998
出版商: OVID
关键词: Chromosome 14q11.2–q13;Genetics;Haplotype analysis;Hispanic Americans;Linkage analysis;Oculopharyngeal muscular dystrophy
数据来源: OVID
摘要:
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant muscular dystrophy characterized by late onset ptosis, proximal muscle weakness and swallowing difficulties. This disease has been recently linked to chromosome 14q11.2-q13 in French-Canadian pedigrees. We studied three unrelated American families with OPMD of Hispanic descent and our results indicate that in this ethnic group, this disease also maps to chromosome 14q11.2-q13 (marker MYH7.24; Zmax= 3.98; &thetas;max= 0). These results represent an independent demonstration of disease linkage in a second distinct ethnic group. Furthermore, our analysis demonstrates a unique haplotype that is shared by affected individuals from all three families suggesting a founder effect for OPMD in this population. Meiotic recombinants and radiation hybrid mapping permit the narrowing of the critical region to 1 Mb which will facilitate positional cloning of the OPMD disease gene.
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