摘要基因组DNA拷贝数变化在许多人类疾病如肿瘤、遗传性疾病的发生发展中起重要作用.经典的细胞遗传技术(如核型分析和比较基因组杂交)由于分辨率低,只能检测较大的拷贝数变化.虽然荧光定量PCR和荧光原位杂交的分辨率大大提高了,但需要预先知道拷贝数变化的位置和类型,且一次只能分析少数位点,缺乏整体性.微阵列比较基因组杂交具有高分辨率、高灵敏度、高通量、自动化和快速等优点,能准确地检测微缺失、微复制和扩增等基因组不平衡,精确地确定断裂点,并把结果直接定位于基因组上,为肿瘤、遗传性疾病及正常人群的基因组DNA拷贝数变化的检测和研究提供了一种有效的方法.

abstractsGenomic DNA copy number alterations play a very important role in pathogenesis and development of many human diseases,such as tumors and genetic diseases.Only large copy number alterations can be detected by classic cytogenetic methods due to their limited resolution.Quantitative fluorescent PCR and fluorescence in situ hybridization require prior knowledge of the type and location of expected aberrations and can only be used for the analysis of a limited number of chromosomal loci at one time.Array-based comparative genomic hybridization can detect single copy loss,duplication,amplification and directly locate these genetic imbalances to genome because of its high resolution,sensitivity and high-throughput.It is an effective method for detecting genomic DNA copy number alterations in tumors,genetic diseases and normal population.