Tayeh Marwan K, Chin Ephrem L H, Miller Vanessa R, Bean Lora J H, Coffee Bradford, Hegde Madhuri
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Genet Med. 2009 Apr;11(4):232-40. doi: 10.1097/GIM.0b013e318195e191.
To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications.
We have developed a high-resolution comparative genomic hybridization array to detect single- and multiexon deletions and duplications in a large set of genes on a single microarray, using the NimbleGen 385K array with an exon-centric design.
We have successfully developed, validated, and implemented a targeted gene comparative genomic hybridization arrays for detecting single- and multiexon deletions and duplication in autosomal and X-linked disease-associated genes.
The comparative genomic hybridization arrays can be adopted readily by clinical molecular diagnostic laboratories as a rapid, cost-effective, highly sensitive, and accurate approach for the detection of single- and multiexon deletions or duplications, particularly in cases where direct sequencing fails to identify a mutation.
开发一种基于高分辨率微阵列的方法来检测单外显子和多外显子基因缺失及重复。
我们开发了一种高分辨率比较基因组杂交阵列，使用具有外显子中心设计的NimbleGen 385K阵列，在单个微阵列上检测大量基因中的单外显子和多外显子缺失及重复。
我们成功开发、验证并实施了一种靶向基因比较基因组杂交阵列，用于检测常染色体和X连锁疾病相关基因中的单外显子和多外显子缺失及重复。
临床分子诊断实验室可轻松采用比较基因组杂交阵列，作为一种快速、经济高效、高度灵敏且准确的方法来检测单外显子和多外显子缺失或重复，特别是在直接测序无法识别突变的情况下。
