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

来源：

NEUROREPORT | 1998年 / 9卷 / 06期

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

页码：961 / 965

页数：5