Molecular characterization of a strong candidate region for schizophrenia
- MIT, Cambridge, MA (United States)
- Albert Einstein College of Medicine, Bronx, NY (United States); and others
Two lines of evidence point to a region on chromosome 22 as potentially involved in the etiology of schizophrenia: First, our own linkage data and second, observations that a greater than expected number of cases with the VCF (velo-cardio-facial) syndrome, a developmental syndrome due to microdeletions of the same genetic region, develop psychotic illness during adolescence. On the molecular genetic level, we are testing the hypothesis that the partial phenotypic overlap between schizophrenia and VCF may be due to overlapping genetic abnormalities. To that end, we have generated somatic cell hybrids from an initial group of nine VCF patients over the age of 15 who underwent psychiatric evaluation. Three were assigned a DSM-III-R diagnosis of schizophrenia. Several hybrid cell lines were generated from each patient carrying either the deleted chromosome, or the intact chromosome, or both. We have analyzed these hybrids and the extent of their chromosome 22 deletions with 41 markers so far (21 polymorphic microsatellite markers and 20 STSs). One of these markers is COMT (catechol-O-methyltransferase) that could be considered a candidate for schizophrenia. We are searching for potential molecular genetic differences between the subgroup of VCF patients that do develop schizophrenia and the subgroup that do not. Our initial efforts concentrate on the possibility of correlation between the extent of the deletion and the schizophrenic phenotype. Results from our analysis so far will be presented. Our goal is to narrow and define more accurately the region potentially involved in the etiology of schizophrenia and successfully identify any gene(s) that may play a role.
- OSTI ID:
- 134422
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1156
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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Velo-cardio-facial syndrome and psychotic disorders: Implications for psychiatric genetics
Related Subjects
BASIC STUDIES
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
PATIENTS
HEREDITARY DISEASES
NERVOUS SYSTEM DISEASES
MENTAL DISORDERS
PHENOTYPE
CONGENITAL MALFORMATIONS
ETIOLOGY
CORRELATIONS
SOMATIC CELLS
HYBRIDIZATION
PYROCATECHOL
STATISTICS
BIOLOGICAL MARKERS