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DNA copy number variation in psychosis trio samples using BAC array CGH and real time quantitative PCR Melnyk, Brianna Leigh
Abstract
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.
Item Metadata
Title |
DNA copy number variation in psychosis trio samples using BAC array CGH and real time quantitative PCR
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Creator | |
Publisher |
University of British Columbia
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Date Issued |
2006
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Description |
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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Genre | |
Type | |
Language |
eng
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Date Available |
2010-01-08
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Provider |
Vancouver : University of British Columbia Library
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Rights |
For non-commercial purposes only, such as research, private study and education. Additional conditions apply, see Terms of Use https://open.library.ubc.ca/terms_of_use.
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DOI |
10.14288/1.0092594
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URI | |
Degree | |
Program | |
Affiliation | |
Degree Grantor |
University of British Columbia
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Graduation Date |
2006-05
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Campus | |
Scholarly Level |
Graduate
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Aggregated Source Repository |
DSpace
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Item Media
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Rights
For non-commercial purposes only, such as research, private study and education. Additional conditions apply, see Terms of Use https://open.library.ubc.ca/terms_of_use.