Sureprint g3 human 1x1m

Array-CGH was performed on patient I1 using the Agilent Sureprint G3 Custom CGH microarray 2x400k (Agilent Technologies, Santa Clara, CA, USA) by Beijing Capitalbio Technology Corporation (Beijing, China). Genomic copy number changes at locus 17p13.3 in other family members (II1, II6, II8, III6, IV5, IV6) were further tested using a microarray with higher probe density (SurePrint G3 Human 1x1M; manufactured by Agilent Technologies, Santa Clara, CA, USA) by the Laboratory of Clinical Genetics of Peking Union Medical College Hospital. The experiment and data analysis were performed according to the manufacturer’s instructions. In brief, patient and control DNA were labeled and combined to hybridize to the 60-mer oligonucleotide-based microarray. The resulting fluorescent signals were automatically scanned by the Agilent SureScan Microarray Scanner. Agilent CytoGenomics software was then used to extract and translate the signal into log ratios for further analysis of copy number changes.

Genomic copy number changes at locus 4p16.1 in F2-5 were further tested by the Laboratory of Clinical Genetics of Peking Union Medical College Hospital using a High-Resolution Array CGH analysis (SurePrint G3 Human 1x1M; Agilent Technologies, Santa Clara, CA, USA). One patient from each family was selected to undergo microarray analysis. The experiment and data analysis were performed according to the manufacturer’s instructions. In brief, patient and control DNA were labeled and combined to hybridize to the 60mer oligonucleotide-based microarray. The resulting fluorescent signals were automatically scanned by the Agilent SureScan Microarray Scanner. Agilent CytoGenomics software was then used to extract and translate the signal into log ratios for further analysis of copy number changes.