Study Of Genome Copy Number Variations In The Congenital Heart Disease Using The Whole Genome Microarray Scanning Technique

Object:This experiment adopted the whole genome microarray scanning technique to test and position the DNA copy number variations in the kids with congenital heart disease, and to investigate the relationship between the clinical features and the genes.Patients and methods:We Selected35children with congenital heart disease diagnosed by echocardiography, and collected2-4ml peripheral blood in EDTA under aseptic conditions. Genomic DNA was extracted and test with the Affymetrix Genome-Wide Human SNP Array6.0. Copy number analysis was performed with the CHAS(Chromosome Analysis Suite).Results:The Affymetrix SNP Array detected different kinds of duplications and deletions in several chromosomes. The results of Affymetrix SNP Array showed deletion of22q11.21(18884837-21465481),duplication of22q11.1(16055170-17023514) in the first case,47,XY,+21in the second case, deletion of22q11.21(18793934-21431554) in the third case, deletion of22q11.21(20716876-21800471) in the fourth case,47,XXX in the fifth case, duplication of Ypll.31q11.221(2650424-16107288) and deletion of Yq11.22q11.23(16167646-28799654) in the sixth case.Conclusion:The whole genome microarray scanning technique can be used to test DNA copy number variations and screen the chromosome mutations. Comparing to conventional cytogenetic analysis methods, the whole genome microarray scanning technique is of high resolution, high-throughput and high accuracy, which facilitates accurately screening out pathogenic copy number variations and genes and investigating karyotype-phenotype correlation. So the whole genome microarray scanning technique can serve as a useful complement for G-banding to be used in the clinical cytogenetic diagnosis.