Genetic mapping and haplotype analysis of oculopharyngeal muscular dystrophy

被引:6
作者
Grewal, RP
Cantor, R
Turner, G
Grewal, RK
Detera-Wadleigh, SD
机构
[1] Univ So Calif, Sch Med, Dept Neurol, Los Angeles, CA 90089 USA
[2] Cedars Sinai Med Ctr, Div Med Genet, Los Angeles, CA 90048 USA
[3] NIMH, Unit Gene Mapping & Express, Clin Neurogenet Branch, NIH, Bethesda, MD 20892 USA
[4] Kaiser Permanente, Dept Ophthalmol, Los Angeles, CA USA
关键词
chromosome; 14q11.2-q13; genetics; haplotype analysis; Hispanic Americans; linkage analysis; oculopharyngeal muscular dystrophy;
D O I
10.1097/00001756-199804200-00002
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
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; Z(max) = 3.98; theta(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. (C) 1998 Rapid Science Ltd.
引用
收藏
页码:961 / 965
页数:5
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