Födinger M, Sunder-Plassmann G, Wagner O F
Klinische Institut für Medizinische, Universität Wien, Osterreich.
Wien Klin Wochenschr. 1999 Apr 23;111(8):315-9.
The number of characterized monogenic and polygenic diseases is rising each year. In consequence, molecular diagnostics is faced with an ever increasing number of patient samples and with more and more heterogeneous genetic defects. The fusion of microelectronics and molecular biology has created a new technology (microelectronic miniaturization), which provides a rapid, efficient, and cost-effective tool in molecular diagnostics at a high-sample throughput. The biochip has recently been selected as one of the ten scientific highlights in the year 1998. The application of microelectronics ranges from the polymerase chain reaction (PCR), nucleotide sequence analysis via DNA-chips or capillary electrophoresis-chips to gene expression analysis. These microchips are suited for integration into fully automated systems, thus providing the basis for automation of molecular diagnostics. The present article summarizes important trends in molecular diagnostics and provides a glimpse on future technologies.
每年，已明确的单基因和多基因疾病的数量都在增加。因此，分子诊断面临着越来越多的患者样本以及越来越多的异质性基因缺陷。微电子学与分子生物学的融合创造了一种新技术（微电子小型化），该技术在高样本通量下为分子诊断提供了一种快速、高效且具有成本效益的工具。生物芯片最近被选为1998年的十大科学亮点之一。微电子学的应用范围从聚合酶链反应（PCR）、通过DNA芯片或毛细管电泳芯片进行核苷酸序列分析到基因表达分析。这些微芯片适合集成到全自动系统中，从而为分子诊断的自动化提供了基础。本文总结了分子诊断的重要趋势，并对未来技术进行了展望。
