ID 2227
File
Authors
Keywords
cardiac myosin-binding protein C gene
denaturing high-performance liquid chroma-tography
hypertrophic cardiomyopathy
mutation detection
Abstract
Denaturing high-performance liquid chromatography (DHPLC), which has recently been developed as an automated method to detect mutations, is at least ten times less expensive than the direct sequencing method; however, its sensitivity and specificity for cardiac myosin-binding protein C (MYBPC3) gene mutations in hypertrophic cardiomyopathy have not been reported yet. A mutation analysis of exons 1 to 35 of MYBPC3 gene from 20 Japanese patients with hypertrophic cardiomyopathy was performed using DHPLC and direct sequencing. Compared to direct sequencing, the sensitivity and specificity of DHPLC were 87.5% and 97.42%, respectively. Its positive and negative predictive values were 41.18% and 99.74%. The positive and negative likelihood ratios were 33.95 and 0.13, and the prevalence was 2.02%. DHPLC showed high sensitivity and specificity for detecting MYBPC3 gene mutations in hypertrophic cardiomyopathy. The use of this complementary sequencing method should reduce the cost of detection of MYBPC3 gene mutations, and could be used to screen patients with hypertrophic cardiomyopathy.
Publisher
Tottori University Faculty of Medicine
Content Type
Journal Article
ISSN
1346-8049
NCID
AA00892882
Journal Title
Yonago Acta medica
Current Journal Title
Yonago Acta medica
Volume
52
Issue
4
Start Page
121
End Page
125
Published Date
2009-12
Text Version
Publisher
Rights
Yonago Acta medica 編集委員会
Citation
Yonago Acta medica. 2009, 52(4), 121-125
Department
Faculty of Medicine/Graduate School of Medical Sciences/University Hospital
Language
English