Fluorescence in situ hybridization (FISH) of DNA-DNA or DNA-RNA using post-mortem brain samples is one approach to study low-level chromosomal aneuploidy and selective expression of specific genes in the brain of patients with neuropsychiatric diseases. We have performed a pilot molecular-cytogenetic analysis of post-mortem brain of schizophrenic patients. Multicolor FISH on two post-mortem brain samples of normal individuals and six schizophrenic individuals (area 10 of cortex) was applied. A set of DNA probes for FISH included: (i) centromeric alphoid DNA probes for chromosomes 7, 8, 13 and 21, 18, X and Y; (ii) classical satellite DNA probes for chromosomes 1 and 16; and (iii) region-specific DNA probes for chromosomes 13, 21 and 22. A statistically significant level of aneuploidy (up to 0.5–4% of neurons) involving chromosomes X and 18 was detected in two post-mortem brains of patients with schizophrenia. These results indicate that low-level chromosomal aneuploidy could be involved in the pathogenesis of schizophrenia. FISH could be applied to extended studies of chromosomal aneuploidy, abnormal patterns of chromosomal organization and functional gene expression in situ in the neurons of the brain in different psychiatric and neurodevelopmental diseases. Schizophrenia and Rett syndrome might be considered as psychiatric diseases of special interest for molecular-cytogenetic analysis as both of them could be associated with mutations in genes involving regulation of neurodevelopmental processes in the brain.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Brain and Development
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Different central nervous system cell types display distinct and nonrandom arrangements of satellite DNA sequences.Proc Natl Acad Sci USA. 1984; 81: 3123-3127
- Reproducible compartmentalization of individual chromosome domains in human CNS cells revealed by in situ hybridization and three-dimensional reconstruction.Chromosoma. 1988; 96: 397-410
- Rapid interphase and metaphase assessment of specific chromosomal changes in neuroectodermal tumor cells by in situ hybridization with chemically modified DNA probes.Exp Cell Res. 1988; 176: 199-220
- Movement of the chromosome X in epilepsy.Science. 1988; 242: 1687-1691
- Somatic pairing of chromosome 1 centromeres in interphase nuclei of human cerebellum.Hum Genet. 1989; 83: 231-234
- Interphase cytogenetics reveals somatic pairing of chromosome 17 centromeres in normal human brain tissue, but no trisomy 7 or sex chromosome loss.Cytogenet Cell Genet. 1991; 56: 214-216
- High resolution fluorescence in situ hybridization using cyanine and fluorescein dyes: ultra-rapid chromosome detection by directly fluorescently labeled alphoid DNA probes.Hum Genet. 1996; 97: 390-398
- Cloning of human satellite III DNA: different components are on different chromosomes.Nucleic Acids Res. 1979; 6: 3177-3197
- Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis.Chromosoma. 1987; 95: 375-386
- Microwave activation of fluorescence in situ hybridization: a novel method for rapid chromosome detection and analysis.Focus. 1994; 16: 115-116
- Insights into intrauterine placental and fetal relationships from the cytogenetic perspective.Cz Pediatrie. 1997; 7: 523-529
- Rett syndrome is caused by mutations in X-linked MeCP2, encoding methyl-CpG-binding protein 2.Nat Genet. 1999; 23: 185-188
- Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: analysis of 31 cases.NeuroReport. 1996; 8: 187-189
- Rett syndrome and the MeCP23 gene.J Med Genet. 2001; 38: 217-223
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.