基因芯片技术是近十多年来发展起来的重要基因组研究技术之一。而基于芯片的比较基因组杂交技术，近年来在癌症基因组分析和先天性发育异常和出生缺陷症研究取得可观的突破性发现，使其变为常规性的研究手段。然而，与一般用于研究基因表达水平差异的表达谱基因芯片不同的是，比较基因组杂交芯片技术对灵敏度，特异性和定量要求极高，必须用特制芯片和相配的杂交和数据分析方法才能从复杂基因组取得有用的信息。目前的比较基因组杂交技术平台虽然已有广泛应用，但还未有从根本上完好解决高灵敏度，高特异性和高分辨率的技术难题。本研究提出开发一种全新的同时兼备高灵敏度，高特异性和高分辨率的比较基因组杂交芯片技术平台。该平台将在基因组拷贝数多态性，癌症基因组大片段重组变异和各类出生缺陷症的染色体异常等研究领域得到广泛的应用，大大改观我国在这些研究领域以及临床应用中面临的自主技术平台缺乏和探针资源贫缺的状况。

Gene array technology is one of major enabling genomic technologies in the past decade. Particularly, the array-based comparative genomic hybridization (aCGH) technique, now a routine research tool, has brought in numerous breakthrough discoveries in the analysis of cancer genome and congenital abnormalities. However, unlike gene expression arrays, comparative genomic hybridization arrays demand high sensitivity, high specificity and high level of quantitativeness, which can only be achieved by specialized arrays and data analysis methods in order to obtain useful information from a complex genome. Although several aCGH platforms have developed and widely used, none of them have all the attributes of high sensitivity, high specificity and high resolution. This study proposes to develop a new aCGH platform that fundamentally solves the problem of sensitivity, specificity and resolution. It is expected that the new platform will find wide applications in the detection of copy number polymorphisms, large DNA rearrangements in cancer, and chromosomal abnormalities in various types of birth defects and provide the needed technical resources for clinical applications.

基因芯片技术是近十多年来发展起来的重要基因组研究技术之一。而基于芯片的比较基因组杂交技术，近年来在癌症基因组分析和先天性发育异常和出生缺陷症研究取得可观的突破性发现，使其变为常规性的研究手段。本研究制备了23033组覆盖了人类全基因组的高质量、高分辨率的探针，并制成了基因芯片，经测试，芯片效果良好。