McKenzie S E, Mansfield E, Rappaport E, Surrey S, Fortina P
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA.
Eur J Hum Genet. 1998 Sep-Oct;6(5):417-29. doi: 10.1038/sj.ejhg.5200218.
We describe recent progress in parallel molecular genetic analyses using DNA microarrays, gel-based systems, and capillary electrophoresis and utilization of these approaches in a variety of molecular biology assays. These applications include use of polymorphic markers for mapping of genes and disease-associated loci and carrier detection for genetic diseases. Application of these technologies in molecular diagnostics as well as fluorescent technologies in DNA analysis using immobilized oligonucleotide arrays on silicon or glass microchips are discussed. The array-based assays include sequencing by hybridization, cDNA expression profiling, comparative genome hybridization and genetic linkage analysis. Developments in non microarray-based, parallel analyses of mutations and gene expression profiles are reviewed. The promise of and recent progress in capillary array electrophoresis for parallel DNA sequence analysis and genotyping is summarized. Finally, a framework for decision making in selecting available technology options for specific molecular genetic analyses is presented.
我们描述了使用DNA微阵列、基于凝胶的系统和毛细管电泳进行平行分子遗传分析的最新进展,以及这些方法在各种分子生物学检测中的应用。这些应用包括使用多态性标记进行基因和疾病相关位点的定位,以及遗传疾病的携带者检测。讨论了这些技术在分子诊断中的应用,以及在硅或玻璃微芯片上使用固定化寡核苷酸阵列进行DNA分析的荧光技术。基于阵列的检测包括杂交测序、cDNA表达谱分析、比较基因组杂交和遗传连锁分析。综述了基于非微阵列的突变和基因表达谱平行分析的进展。总结了毛细管阵列电泳在平行DNA序列分析和基因分型方面的前景和最新进展。最后,提出了一个在为特定分子遗传分析选择可用技术选项时进行决策的框架。