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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
Published on: August 5, 2008
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
Takeshi Mizuguchi1, Ryota Hashimoto2,3, Masanari Itokawa4
1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.
Journal of Human Genetics
|August 8, 2008
Summary
Genetic analysis reveals that 10% of schizophrenia patients harbor chromosomal abnormalities. A genome-wide copy number survey is recommended for future genetic studies of schizophrenia.
Area of Science:
- Genetics
- Psychiatry
- Genomics
Background:
- Schizophrenia is a common psychiatric disorder with a significant genetic component.
- Chromosomal abnormalities are implicated in schizophrenia pathogenesis, with DISC1 being a notable example.
Purpose of the Study:
- To investigate the prevalence of (sub)microscopic chromosomal abnormalities in schizophrenia patients.
- To assess the utility of genome-wide copy number surveys in schizophrenia genetic research.
Main Methods:
- Comparative genomic hybridization (CGH) using a custom bacterial artificial chromosome (BAC) microarray was performed on 59 schizophrenia patients.
- The microarray contained 4,219 BACs, offering a resolution of 0.7 Mb.
Main Results:
- Chromosomal abnormalities were identified in 6 out of 59 patients (10%).
- These included autosomal abnormalities in three cases (likely pathogenic) and sex chromosome abnormalities in three cases.
- Specific abnormalities noted were der(13)t(12;13), del(5)(p11p12), del(17)(p12p12), dup(11)(p13p13), idic(Y)(q11.2), and mosaicism (45,X/46XX).
Conclusions:
- Approximately 10% of schizophrenia patients exhibit (sub)microscopic chromosomal abnormalities.
- Genome-wide copy number analysis should be considered a valuable tool in the genetic investigation of schizophrenia.
