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  • Title: Investigation by linkage analysis of the XY pseudoautosomal region in the genetic susceptibility to schizophrenia.
    Author: Kalsi G, Curtis D, Brynjolfsson J, Butler R, Sharma T, Murphy P, Read T, Petursson H, Gurling HM.
    Journal: Br J Psychiatry; 1995 Sep; 167(3):390-3. PubMed ID: 7496650.
    Abstract:
    BACKGROUND: A susceptibility locus for schizophrenia in the pseudoautosomal region has been proposed on the basis of a possible excess of sex chromosome aneuploidies among patients with schizophrenia and an increased sex concordance in affected sib pairs. Several studies investigating this hypothesis have produced conflicting evidence. METHOD: In a series of Icelandic and British families, we used lod score and sib pair linkage analyses with markers for the MIC2 and DXYS14 loci on the pseudoautosomal XY region. RESULTS: Lod and sib pair linkage analysis with these markers produced strongly negative scores. Heterogeneity testing also produced negative results. CONCLUSION: We conclude that the present study provides no support for the involvement of either the pseudoautosomal region or the nearby region of the sex chromosomes in the aetiology of schizophrenia.
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