Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize two interstitial deletions identified on chromosome 22q11 in a sample of schizophrenic patients. The size of the deletions was estimated to be between 1.5 and 2 megabases. In study B, we examine whether variations in deletion size are associated with the schizophrenic phenotype in velocardiofacial syndrome patients. Our results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia. Our findings should facilitate identification and cloning of the schizophrenia susceptibility gene(s) in this region and identification of more homogeneous subgroups of patients.
Karayiorgou
M
M
Fred Hutchinson Cancer Research Center, Seattle, WA 98104, USA.
Morris
M A
MA
Morrow
B
B
Shprintzen
R J
RJ
Goldberg
R
R
Borrow
J
J
Gos
A
A
Nestadt
G
G
Wolyniec
P S
PS
Lasseter
V K
VK
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002461:Cell Line, Transformed; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D017931:DNA Primers; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D004854:Herpesvirus 4, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015994:Incidence; D008214:Lymphocytes; D008297:Male; D016133:Polymerase Chain Reaction; D012559:Schizophrenia / Q000453:epidemiology / Q000235:genetics*; D013577:Syndrome
D017931:DNA Primers; D005819:Genetic Markers