Point-mutation detection of mitochondrial DNA by using microfluidic systems

Chen Min Chang, Li Fang Chiou, Dar Bin Shieh, Gwo Bin Lee

研究成果: Conference contribution

摘要

Mitochondrial disorders are a group of complex and heterogeneous diseases that may be caused by molecular defects in mitochondrial genomes. Pathogenic mitochondrial DNA (mtDNA) mutations are usually present in the heteroplasmic form. The degree of mtDNA mutation heteroplasmy varies among different tissues. Thus, it is important to detect and quantify the degree of mutation heteroplasmy of mtDNA. Currently, more than 100 pathogenic mtDNA point-mutations have been documented and new ones are still being extensively explored. Among them, A3243G mutation, which causes the myopathy encephalopathy lactic acidosis and stroke (MELAS) syndrome and diabetes, attracts considerable interest recently. In this study, a new microfluidic system capable of point-mutation detection of mtDNA has been demonstrated. The entire process including cell lysis, enzyme digestion, amplification of target fragment of mtDNA and optical detection can be automatically performed. Experimental results showed that the point-mutation of mtDNA can be successfully detected.

原文English
主出版物標題15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011
頁面996-998
頁數3
出版狀態Published - 2011 十二月 1
事件15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011 - Seattle, WA, United States
持續時間: 2011 十月 22011 十月 6

出版系列

名字15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011
2

Other

Other15th International Conference on Miniaturized Systems for Chemistry and Life Sciences 2011, MicroTAS 2011
國家United States
城市Seattle, WA
期間11-10-0211-10-06

All Science Journal Classification (ASJC) codes

  • Control and Systems Engineering

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