摘要基因组拷贝数目变异(copy number variations,CNVs)是一种大小介于lkb～3Mb的DNA片段的变异,在人类基因组中广泛分布.近年来的研究表明,基因组拷贝数目变异与染色体微缺失和微重复综合征密切相关,而染色体微缺失、微重复综合征是导致智力障碍和多发畸形的重要因素,在围产儿和新生儿中发病率较高.虽然传统的细胞核型分析技术已经广泛应用于染色体异常的诊断,但其具有分辨率低、细胞培养的周期长等的局限性.微阵列比较基因组杂交(array comparative genomic hybridization,aCGH)技术是在CGH技术基础上发展起来的新的染色体病诊断技术,分辨率能够达到0.05 Mb,可以检测到一些核型分析检测不到的染色体的微小缺失或重复,是研究整个基因组缺失或重复的非常有应用前途的分子细胞遗传学技术.本综述主要阐述微阵列比较基因组杂交技术在研究智力发育异常和多发性畸形患儿中的应用进展.

abstractsCopy number variations (CNVs) were the variations of the DNA fragment whose length ranges from 1 kb to 3 Mb.And these variations were widely distributed in the whole genome of human.Recent studies showed that CNVs closely related to the microdeletion and microduplication syndromes of chromosome.The microdeletion and microduplication syndromes of chromosome were the key factors in mental retardation and multi-malformations,which contributed to the high incidence in perinatal babies and neonates.Although the conventional cytogenetic karyotyping has been widely used in the diagnosis of chromosomal abnormalities,it has some limitations:low resolution,long period of cell culture,and so on.Array-based comparative genomic hybridization (aCGH),developing from CGH,was a new diagnostic technology for chromosomal disease.The resolution of aCGH reached 0.05 Mb,so aCGH can detect the microdeletion or microduplication that traditional karyotyping can' t detect and is a technology of molecular cytogenetics with great expectation in the research of microdeletion and microduplication.Our review was to describe the advances of aCGH for detecting the children with mental retardation and multi-malformations.