フルテキストファイル
著者
Bahrudin Udin Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science
Mizuta Einosuke Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science
Dewi Ariani Mahayu Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University
Nindita Yora Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science
Hisatome Ichiro Division of Regenerative Medicine and Therapeutics, Institute of Regenerative Medicine and Bio-function, Tottori University Graduate School of Medical Science 研究者総覧 KAKEN
キーワード
cardiac myosin-binding protein C gene
denaturing high-performance liquid chroma-tography
hypertrophic cardiomyopathy
mutation detection
抄録
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.
出版者
Tottori University Faculty of Medicine
資料タイプ
学術雑誌論文
ISSN・ISBN
1346-8049
書誌ID
AA00892882
掲載誌名
Yonago Acta medica
最新掲載誌名
Yonago Acta medica
52
4
開始ページ
121
終了ページ
125
発行日
2009-12
著者版フラグ
出版社版
著作権表記
Yonago Acta medica 編集委員会
掲載情報
Yonago Acta medica. 2009, 52(4), 121-125
言語
英語