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目的探讨微阵列比较基因组杂交技术(array-based comparative genomic hybridization,array-CGH)在诊断不平衡染色体畸变中的应用价值。方法选取5例常规G显带染色体核型分析未能确诊的不平衡染色体畸变病例,按照标准的Cyto Scan 750K微阵列的操作手册进行杂交、洗涤及全基因组扫描,并通过相应的计算机软件分析结果。结果通过array-CGH技术分析,明确了所有5例染色体不平衡畸变的诊断并且进行精确定位,对2例G显带未识别的缺失合并重复的衍生染色体进行了精确诊断,并对1例镜下染色体出现无法确定来源的额外染色体条带进行确诊。结论 array-CGH技术在DNA水平上对染色体不平衡畸变的诊断具有敏感性、特异性和高分辨率,并且能够精确定位,对染色体疾病作出基因型—表型关系的诊断具有重要的应用价值。
Objective To investigate the value of array-based comparative genomic hybridization (array-CGH) in the diagnosis of unbalanced chromosome aberrations. Methods Unbalanced chromosomal aberrations were analyzed in 5 patients with conventional G-banding karyotype analysis. The hybridization, washing and genome-wide scanning were performed according to the standard Cyto Scan 750K microarray operating manual and the results were analyzed by corresponding computer software . Results The results of array-CGH analysis identified all 5 cases of chromosomal unbalanced aberrations and pinpointed them accurately. Two cases of G chromosomes with unidentified deletions and duplication-derived chromosomes were accurately diagnosed. Chromosomes appear indefinite sources of additional chromosome bands for diagnosis. Conclusion The array-CGH technique is sensitive, specific and high-resolution at the DNA level for diagnosing unbalanced chromosome aberrations and can be precisely located. It is of great value in genotype-phenotype diagnosis of chromosomal diseases.