Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

被引：3

作者：

Ahn, Joo Wook ^{[1
]}

Coldwell, Michael ^{[2
]}

Bint, Susan ^{[2
]}

Ogilvie, Caroline Mackie ^{[1
]}

机构：

[1] Guys & St Thomas NHS Fdn Trust, Dept Cytogenet, London, England

[2] Viapath Analyt, Dept Cytogenet, London, England

来源：

JOVE-JOURNAL OF VISUALIZED EXPERIMENTS | 2015年 / 96期

关键词：

Molecular Biology; Issue; 96; array CGH; aCGH; copy number variant; CNV; deletion; duplication; hybridization; fluorescent labeling; TEST IN-PLACE; CHROMOSOMAL MICROARRAY; DIAGNOSTIC-TEST; IMPLEMENTATION; FEATURES;

D O I：

10.3791/51718

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Array CGH for the detection of genomic copy number variants has replaced G-banded karyotype analysis. This paper describes the technology and its application in a clinical diagnostic service laboratory. DNA extracted from a patient's sample (blood, saliva or other tissue types) is labeled with a fluorochrome (either cyanine 5 or cyanine 3). A reference DNA sample is labeled with the opposite fluorochrome. There follows a cleanup step to remove unincorporated nucleotides before the labeled DNAs are mixed and resuspended in a hybridization buffer and applied to an array comprising similar to 60,000 oligonucleotide probes from loci across the genome, with high probe density in clinically important areas. Following hybridization, the arrays are washed, then scanned and the resulting images are analyzed to measure the red and green fluorescence for each probe. Software is used to assess the quality of each probe measurement, calculate the ratio of red to green fluorescence and detect potential copy number variants.

引用

页数：5

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