Zahir F, Friedman J M
Department of Medical Genetics, University of British Columbia Children's and Women's Hospital, 4500 Oak Street, Vancouver, BC, Canada.
Clin Genet. 2007 Oct;72(4):271-87. doi: 10.1111/j.1399-0004.2007.00847.x.
Our understanding of the causes of mental retardation is benefiting greatly from whole-genome scans to detect submicroscopic pathogenic copy number variants (CNVs) that are undetectable by conventional cytogenetic analysis. The current method of choice for performing whole-genome scans for CNVs is array genomic hybridization (AGH). Several platforms are available for AGH, each with its own strengths and limitations. This review discusses considerations that are relevant to the clinical use of whole-genome AGH platforms for the diagnosis of pathogenic CNVs in children with mental retardation. Whole-genome AGH studies are a maturing technology, but their high diagnostic utility assures their increasing use in clinical genetics.
我们对智力迟钝病因的理解正从全基因组扫描中受益匪浅，全基因组扫描用于检测传统细胞遗传学分析无法检测到的亚微观致病性拷贝数变异（CNV）。目前用于进行CNV全基因组扫描的首选方法是阵列基因组杂交（AGH）。有几种AGH平台可供选择，每种平台都有其自身的优势和局限性。本综述讨论了与全基因组AGH平台在智力迟钝儿童致病性CNV诊断临床应用相关的注意事项。全基因组AGH研究是一项不断成熟的技术，但其高诊断效用确保了其在临床遗传学中的使用日益增加。
