Schizophrenia Research
Volume 73, Issue 2 , Pages 263-267, 1 March 2005

A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients

  • Anat Horowitz

      Affiliations

    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • ,
  • Sagiv Shifman

      Affiliations

    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • ,
  • Nechama Rivlin

      Affiliations

    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • ,
  • Anne Pisanté

      Affiliations

    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • ,
  • Ariel Darvasi

      Affiliations

    • Corresponding Author InformationCorresponding author. The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel. Tel.: +972-2-6584303; fax: +972-2-5671179.
    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • IDgene Pharmaceuticals Ltd., Jerusalem 91344, Israel

Received 5 August 2003; received in revised form 5 February 2004; accepted 17 February 2004.

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.

Keywords:  22q11 Microdeletion, Schizophrenia, Microsatellites

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PII: S0920-9964(04)00060-X

doi:10.1016/j.schres.2004.02.008

Schizophrenia Research
Volume 73, Issue 2 , Pages 263-267, 1 March 2005

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