Keen-Kim Dianne, Grody Wayne W, Richards C Sue
University of California Los Angeles, Center for Neurobehavioral Genetics, 965 Charles E Young Dr. South, Gonda 3554, Los Angeles, CA 90095, USA.
Expert Rev Mol Diagn. 2006 May;6(3):287-94. doi: 10.1586/14737159.6.3.287.
Hundreds of gene mutations responsible for Mendelian disorders are currently tested in the clinical laboratory for pre- and postnatal diagnosis, carrier screening and presymptomatic testing. Since human genetic research is currently focused on determining the etiology of complex diseases, including heart disease, diabetes and neuropsychiatric traits, laboratorians will genotype increasing numbers of clinically relevant loci in the future. This will require accurate, high-throughput and cost-effective genotyping platforms, such as the DNA microarray. The Nanogen NanoChip platforms employ hybridization-based technology, using fluorescent detection and electronic control of the target or probe, to obtain clear genotype signal relative to background, and increased flexibility relative to similar chip-based single nucleotide polymorphism genotyping platforms. The scope of this review is intended to describe the operating principle, chips and instrumentation, analyte-specific reagents, published assay protocols, assay development, and clinical use of the NanoChip platforms. It is beyond the scope of this review to describe the use of NanoChip platforms in basic research, and to compare it against all available clinical single nucleotide polymorphism genotyping applications and platforms.
目前，临床实验室对数百种导致孟德尔疾病的基因突变进行检测，用于产前和产后诊断、携带者筛查以及症状前检测。由于目前人类基因研究主要集中在确定包括心脏病、糖尿病和神经精神特质在内的复杂疾病的病因，未来实验室工作人员将对越来越多具有临床相关性的基因座进行基因分型。这将需要准确、高通量且经济高效的基因分型平台，比如DNA微阵列。Nanogen NanoChip平台采用基于杂交的技术，利用荧光检测以及对靶标或探针的电子控制，以获得相对于背景清晰的基因型信号，并且相对于类似的基于芯片的单核苷酸多态性基因分型平台具有更高的灵活性。本综述旨在描述NanoChip平台的工作原理、芯片和仪器、分析物特异性试剂、已发表的检测方案、检测开发以及临床应用。本综述的范围不包括描述NanoChip平台在基础研究中的应用，也不包括将其与所有可用的临床单核苷酸多态性基因分型应用和平台进行比较。
