Molecular biology of human muscle disease
Journal Article
·
· Bio/Technology; (United States)
- Baylor Coll. of Medicine, Houston, TX (United States)
The molecular revolution that is transforming the entire biomedical field has had far-reaching impact in its application to inherited human muscle disease. The gene for Duchenne muscular dystrophy was one of the first cloned without knowledge of the defective protein product. This success was based upon the availability of key chromosomal aberrations that provided molecular landmarks for the disease locus. Subsequent discoveries regarding the mode of expression for this gene, the structure and localization of its protein product dystrophin, and molecular diagnosis of affected and carrier individuals constitute a paradigm for investigation of human genetics. Finding the gene for myotonic muscular dystrophy is requiring the brute force approach of cloning several million bases of DNA, identifying expressed sequences, and characterizing candidate genes. The gene that causes hypertrophic cardiomyopathy has been found serendipitously to be one of the genetic markers on chromosome 14, the {beta} myosin heavy chain.
- OSTI ID:
- 5148311
- Journal Information:
- Bio/Technology; (United States), Journal Name: Bio/Technology; (United States) Vol. 9:1; ISSN BTCHD; ISSN 0733-222X
- Country of Publication:
- United States
- Language:
- English
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