Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes

Wiley - Tập 60 Số 3 - Trang 252-260 - 1995
Ann E. Pulver1, Virginia K. Lasseter1, Laura Kasch1, Paula Wolyniec1, Gerald Nestadt1, Jean‐Louis Blouin1,2, Michelle L. Kimberland3, Robert A. Davey1, Sophia Vourlis1,2, Haiming Chen1,2, Maria D. Lalioti1,2, Michael A. Morris1,2, Maria Karayiorgou4, Jürg Ott5, Deborah A. Meyers1, Stylianos E. Antonarakis2, David E. Housman6, Haig H. Kazazian3
1Departments of Psychiatry and Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland
2Genes-R-Us Laboratory of Human Molecular Genetics, University of Geneva and Division of Medical Genetics, Cantonal Hospital, Geneva, Switzerland
3Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania
4Fred Hutchinson Cancer Research Center, Seattle, Washington
5Departments of Psychiatry and of Genetics and Development, Columbia University, New York, New York
6Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts

Tóm tắt

Abstract

Using a systematically ascertained sample of 57 families, each having 2 or more members with a consensus diagnosis of schizophrenia (DSM‐III‐R criteria), we have carried out linkage studies of 520 loci, covering approximately 70% of the genome for susceptibility loci for schizophrenia. A two‐stage strategy based on lod score thresholds from simulation studies of our sample identified regions for further exploration. In each region, a dense map of highly informative dinucleotide repeat polymorphisms (heterozygosity greater than .70) was analyzed using dominant, recessive, and “affected only” models and nonparametric sib pair identity‐by‐descent methods. For one region, 8p22‐p21, affected sib‐pair analyses gave a P value = .0001, corresponding to a lod score approximately equal to 3.00. For 8p22–p21, the maximum two‐point lod score occurred using the “affected only” recessive model (ZMAX = 2.35; θM = θF); allowing for a constant sex difference in recombination fractions found in reference pedigrees, ZMAX = 2.78 (θMF = 3). For a second region, 3p26–p24, the maximum two‐point lod score was 2.34 (“affected only” dominant model), and the affected sib‐pair P value was .01. These two regions are worthy of further exploration as potential sites of susceptibility genes for schizophrenia. © 1995 Wiley‐Liss, Inc.

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