PMID- 11738870 OWN - NLM STAT- MEDLINE DCOM- 20020313 LR - 20220331 IS - 0387-7604 (Print) IS - 0387-7604 (Linking) VI - 23 Suppl 1 DP - 2001 Dec TI - Multicolor fluorescent in situ hybridization on post-mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases. PG - S186-90 AB - 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. FAU - Yurov, Y B AU - Yurov YB AD - National Research Center of Mental Health, Russian Academy of Medical Sciences, 113152, Zagorodnoe sh. 2, Moscow, Russia. yurov@rcmh.msk.ru FAU - Vostrikov, V M AU - Vostrikov VM FAU - Vorsanova, S G AU - Vorsanova SG FAU - Monakhov, V V AU - Monakhov VV FAU - Iourov, I Y AU - Iourov IY LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Netherlands TA - Brain Dev JT - Brain & development JID - 7909235 SB - IM MH - Adult MH - Aged MH - *Aneuploidy MH - Brain/*metabolism/pathology/physiopathology MH - DNA Mutational Analysis/*methods MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Male MH - Middle Aged MH - Mutation/*genetics MH - Pilot Projects MH - Postmortem Changes MH - Schizophrenia/*genetics/*pathology MH - Sex Chromosome Aberrations MH - Sex Chromosomes/genetics MH - Sex Factors EDAT- 2001/12/12 10:00 MHDA- 2002/03/14 10:01 CRDT- 2001/12/12 10:00 PHST- 2001/12/12 10:00 [pubmed] PHST- 2002/03/14 10:01 [medline] PHST- 2001/12/12 10:00 [entrez] AID - S0387760401003631 [pii] AID - 10.1016/s0387-7604(01)00363-1 [doi] PST - ppublish SO - Brain Dev. 2001 Dec;23 Suppl 1:S186-90. doi: 10.1016/s0387-7604(01)00363-1.