Abstract
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.
Keywords
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
