Identification of rare copy number polymorphic gains at 3q12.2 and 19q13.2 identifies candidate genes for familial endometriosis

The association between endometriosis, genomic copy number variant polymorphisms and differential gene expression is still unclear. The rationale of this study was to identify regions of copy number change in familial endometriosis, which could contain genes that may be involved with the susceptibility and progression of this disease. The Agilent Human Genome CGH microarray 400K (Agilent Technologies, Inc) were used for array-CGH experiments. 1μg of Human Genomic DNA from multiple anonymous female donors (Promega Corporation) and 1μg of test genomic endometrium DNA sample were used, according to the Agilent Array Protocol. The references were labelled with Cy3-dUTP and endometrium DNA samples were labelled with Cy5-dUTP. Arrays were scanned using an Agilent microarray scanner (Agilent Technologies, Inc), and processed using Agilent’s Feature Extraction software.