Why the study?
Is denaturing high performance liquid chromatography (DHPLC) a useful high throughput tool for DNA mutation detection in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease?
Population
150 unrelated patients diagnosed with familial hypertrophic cardiomyopathy, 140 patients with sporadic motor…
Comparison
Denaturing high performance liquid… vs Conventional methods
Design
Other
Key result
Denaturing high performance liquid chromatography identified causative MYH7 mutations in 14% of FHC cases and detected the A67T SNP more frequently in MND cases (13.6%) than controls (6.8%).
Authors
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DHPLC is a sensitive and high-throughput platform for detecting DNA variants such as mutations in familial hypertrophic cardiomyopathy.
Observational (n=570)
Is denaturing high performance liquid chromatography (DHPLC) a useful high throughput tool for DNA mutation detection in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease?
Absolute Event Rate: 13.6% vs 6.8%
DHPLC is a sensitive and high-throughput platform for detecting DNA variants such as mutations in familial hypertrophic cardiomyopathy.
Yu et al. (2005) conducted an observational in Familial hypertrophic cardiomyopathy and motor neurone disease (n=570). Denaturing high performance liquid chromatography (DHPLC) vs. Controls (for MND) was evaluated on Mutation detection in MYH7 and A67T SNP genotyping. Denaturing high performance liquid chromatography identified causative MYH7 mutations in 14% of FHC cases and detected the A67T SNP more frequently in MND cases (13.6%) than controls (6.8%).