期刊
GENOMICS
卷 91, 期 6, 页码 517-521出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2008.03.007
关键词
cardiomyopathy; primary; dilated; death; sudden; canine; genetic linkage
资金
- NCRR NIH HHS [P40 RR002512-23, RR02512, P40 RR002512] Funding Source: Medline
- NHLBI NIH HHS [R01 HL018848-31, R01 HL018848, HL018848] Funding Source: Medline
- NATIONAL CENTER FOR RESEARCH RESOURCES [P40RR002512] Funding Source: NIH RePORTER
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [R37HL018848, R01HL018848] Funding Source: NIH RePORTER
Dilated cardiomyopathy (DCM), the most common form of cardiomyopathy, often leads to heart failure and sudden death. While a substantial proportion of DCMs are inherited, mutations responsible for the majority of DCMs remain unidentified. A genome-wide linkage study was performed to identify the locus responsible for an autosomal recessive inherited form of juvenile DCM (JDCM) in Portuguese water dogs using 16 families segregating the disease. Results link the JDCM locus to canine chromosome 8 with two-point and multipoint lod scores of 10.8 and 14, respectively. The locus maps to a 3.9-Mb region, with complete syntenic homology to human chromosome 14, that contains no genes or loci known to be involved in the development of any type of cardiomyopathy. This discovery of a DCM locus with a previously unknown etiology will provide a new gene to examine in human DCM patients and a model for testing therapeutic approaches for heart failure. (C) 2008 Elsevier Inc. All rights reserved.
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