北京大学学报（医学版）2009，Vol.41Issue(4)：500-504,5.DOI:10.3969/j.issn.1671-167X.2009.04.028
基于微阵列芯片的比较基因组杂交技术在临床实验室产前诊断中的应用
Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting
Amy M. BREMAN 1毕为民 1张秀慧1
作者信息
- 1. Medical Genetics Laboratories,Depanment 0f Molecular and Human Genetics, Baylor College of Medicine,Houston,TX 77030,USA
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摘要
Abstract
Array-based comparative genomic hybridization (array CGH), a method used to detect gains or losses of genetic material, has recently been applied to prenatal diagnosis of genomic imbalance in the clinical laboratory setting. This new and exciting diagnostic tool represents a major technological step forward in cytogenetic testing and addresses many of the limitations of current cytogenetic methods.Conventional chromosome analysis, the current gold standard in prenatal diagnosis, focuses primarily on the detection of common aneuploidies and is limited by its capacity to detect only those copy number changes that are large enough to be microscopically visible (typically 5-6 Mb in size at the 500 band level). In contrast, array CGH analysis simultaneously evaluates regions across the entire genome and al-lows for detection of unbalanced structural and numerical chromosome abnormalities of less than one hun-dred kb. Array CGH analysis also overcomes some of the limitations of chromosome analysis, such as the requirement for cell culture and longer reporting time, by using direct uncultured fetal specimens. With many diagnostic laboratories now embracing this technology, the past year has seen tremendous growth in the use of array CGH analysis for prenatal diagnosis. This review aims to summarize array CGH methodology and its current applications in prenatal diagnosis.关键词
产前诊断/核酸杂交/微阵列分析/临床实验室技术Key words
Prenatal diagnosis/Nucleic acid hybridization/Microarray analysis/Clinical laboratory techniques分类
医药卫生引用本文复制引用
Amy M. BREMAN,毕为民,张秀慧..基于微阵列芯片的比较基因组杂交技术在临床实验室产前诊断中的应用[J].北京大学学报（医学版）,2009,41(4):500-504,5.
