title: A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients.
abstract: The occurrence of a microdeletion at 22q11 has long been considered to constitute a risk factor for schizophrenia. Higher rates of 22q11 deletions have been reported in cohorts of patients with schizophrenia. In order to estimate the prevalence of the 22q11 deletion in schizophrenia patients more accurately, a screening for 22q11 deletions was conducted on a cohort of 634 schizophrenia patients, the largest sample size screened to date. Seven microsatellites and three SNPs were used to assess the deletion genotype. In cases where all markers were found to be homozygous (hemizygous), the individual was assumed to carry the deletion. The method used here is simple and efficient in comparison with hybridization technologies. Moreover, the rate of false positives is very low (P-value in the range of 10(-4) to 10(-3)). Approximately 1% of the patient cohort was found to carry 22q11 deletions.
authors.affiliation: The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel.
authors.forename: Anat
authors.initials: A
authors.lastname: Horowitz
authors.forename: Sagiv
authors.initials: S
authors.lastname: Shifman
authors.forename: Nechama
authors.initials: N
authors.lastname: Rivlin
authors.forename: Anne
authors.initials: A
authors.lastname: Pisanté
authors.forename: Ariel
authors.initials: A
authors.lastname: Darvasi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002394:Catechol O-Methyltransferase / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D015331:Cohort Studies; D017931:DNA Primers / Q000235:genetics; D005189:False Positive Reactions; D005260:Female; D017353:Gene Deletion; D015870:Gene Expression / Q000235:genetics; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods*; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D002394:Catechol O-Methyltransferase