Sireteanu Adriana, Covic M, Gorduza E V
Universităţii de Medicină şi Farmacie "Grigore T. Popa" Iaşi.
Rev Med Chir Soc Med Nat Iasi. 2012 Apr-Jun;116(2):545-51.
During the past ten years a particular molecular technology - array comparative genomic hybridization (aCGH)--has received a great deal of attention. Array CGH can detect simultaneously sub-microscopic copy number changes across the whole genome, thus overcoming the limitations of karyotyping or locus-specific techniques. Array CGH has become an important tool for clinical diagnostics and gene-identification studies and is having a great impact on the understanding of pathologies, the counselling of families and patient management. Different types of array CGH platforms at increasingly higher resolution have been developed, differing mainly in the type of the interrogating probes and in their coverage of the genome. Here, we review the array CGH methodology and its various applications in clinical diagnostics and research. Although it's an expensive technology and differentiating between pathogenic and benign copy number variations is a challenging task, array CGH is an efficient and robust method for assesing disease-causing genomic imbalances and will probably replace karyotype as the primary cytogenetic test.
在过去十年中，一种特殊的分子技术——阵列比较基因组杂交（aCGH）——受到了广泛关注。阵列CGH能够同时检测全基因组范围内亚微观的拷贝数变化，从而克服了核型分析或位点特异性技术的局限性。阵列CGH已成为临床诊断和基因鉴定研究的重要工具，对病理学的理解、家庭咨询和患者管理产生了重大影响。不同类型的、分辨率越来越高的阵列CGH平台不断涌现，其主要区别在于检测探针的类型及其对基因组的覆盖范围。在此，我们回顾阵列CGH方法及其在临床诊断和研究中的各种应用。尽管它是一项昂贵的技术，并且区分致病性和良性拷贝数变异是一项具有挑战性的任务，但阵列CGH是评估致病基因组失衡的一种高效且可靠的方法，很可能会取代核型分析成为主要的细胞遗传学检测方法。
