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DNA copy number variation in psychosis trio samples using BAC array CGH and real time quantitative PCR Melnyk, Brianna Leigh


Schizophrenia and bipolar disorder are debilitating mental illnesses. Due to their high genetic predisposition, efforts have focused on attempting to find candidate loci. Numerous regions and loci have been suggested and investigated for potential candidate genes, but none have been found to be necessary or sufficient for the development of either disease. DNA copy number changes are often important in genetic disease. For example, changes in DNA copy number are linked to mental retardation (Klein et al., 2004) and cancer (Albertson et al., 2000). Bacterial artificial chromosome (BAC) array comparative genomic hybridization (aCGH) and real time quantitative PCR (RTqPCR) were used to explore copy number variation in 20 first episode psychosis trios (proband, mother and father) with probands affected with psychosis. The genome scan results showed 11 copy number differences (9 amplifications and 2 deletions) at seven loci. Retesting three of these seven loci with RTqPCR showed 18 amplifications and three deletions. The retested locus showing the most variation in copy number was the lipoprotein A gene. Recendy, protein levels of Lp(a) were shown to be significantly increased in patients with schizophrenia, bipolar disorder and major depression (Emanuele et al, 2006). Comparison of the aCGH and RTqPCR results revealed that of the six trios with aCGH-detected aberrations wiriiin RTqPCR-tested loci, three were confirmed in the same samples and in the same direction. The results from this study contribute to the understanding of copy number variation in the human genome using trio sets as samples, and provide insight into different methods for copy number analysis.

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