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No Evidence for a Pseudoautosomal Locus for Schizophrenia

Linkage Analysis of Multiply Affected Families

Published online by Cambridge University Press:  02 January 2018

P. Asherson ,
E. Parfitt ,
M. Sargeant ,
S. Tidmarsh ,
P. Buckland ,
C. Taylor ,
A. Clements ,
M. Gill ,
P. Mcguffin  and
M. Owen
P. Asherson*
Affiliation:
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff CF4 4XN
E. Parfitt
Affiliation:
Department of Medical Genetics, University of Wales College of Medicine, Cardiff
M. Sargeant
Affiliation:
St Tydfil's Hospital, Merthyr Tyafil
S. Tidmarsh
Affiliation:
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff
P. Buckland
Affiliation:
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff
C. Taylor
Affiliation:
Institute of Psychiatry, London
A. Clements
Affiliation:
Genetics Section, Institute of Psychiatry, London
M. Gill
Affiliation:
Genetics Section, Institute of Psychiatry, London
P. Mcguffin
Affiliation:
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff
M. Owen
Affiliation:
Departments of Medical Genetics and Psychological Medicine, University of Wales College of Medicine, Cardiff
*
∗Correspondence
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Abstract

Evidence for a pseudoautosomal locus for a schizophrenia susceptibility gene was sought by two forms of analysis of 25 multiply affected families. Firstly, in the sample as a whole there was an excess of same-sex over mixed-sex siblings compared with that expected. Secondly, linkage analysis was performed in six of the families. The genotypes were studied for DXYS14, a highly polymorphic marker in the telomeric pseudoautosomal region. No evidence for positive linkage was found with two-point analysis under eight different genetic models for the mode of transmission. A non-parametric, sibling-pair analysis also failed to detect linkage. Our findings provide no evidence for linkage within the pseudoautosomal region; same-sex concordance must arise from some other mechanism.

Type
Papers
Information
The British Journal of Psychiatry , Volume 161 , Issue 1 , July 1992 , pp. 63 - 68
Copyright
Copyright © 1992 The Royal College of Psychiatrists 

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References

Clerget-Darpoux, F. (1991) The uses and abuses of linkage analysis in neuropsychiatric disorder. In The New Genetics of Mental Illness (eds McGuffin, P. & Murray, R.), pp. 44–57, Oxford: Butterworth Google Scholar
Collinge, J. S. Delisi, L. E., Boccio, A., et al (1991) Evidence for a pseudoautosomal locus for schizophrenia using the method of Affected Sibling Pairs. British Journal of Psychiatry, 158, 624–629.Google Scholar
Cooke, H. J., Brown, R. A. & Rappold, G. A. (1985) Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature, 317, 687–692.Google Scholar
Crow, T. J. (1988) Sex chromosomes and psychosis. The case for a pseudoautosomal locus. British Journal of Psychiatry, 153, 675–683.Google Scholar
Crow, T. J., DeLisi, L. E. & Johnstone, E. C. (1989) Concordance by sex in sibling pairs with schizophrenia is paternally inherited: evidence for a pseudoautosomal locus. British Journal of Psychiatry, 155, 92–97.Google Scholar
Crow, T. J., DeLisi, L. E. & Johnstone, E. C. (1990) In reply … a locus closer to the telomere? British Journal of Psychiatry, 156, 416–420.Google Scholar
Curtis, D. & Gurling, H. (1990) Unsound methodology in investigating a pseudoautosomal locus in schizophrenia. British Journal of Psychiatry, 156, 415–416.Google Scholar
Gill, M., McGuffin, P. & Parfitt, E. (1992) A linkage study of schizophrenia with DNA markers from the long arm of chromosome 11. Psychological Medicine (in press).Google Scholar
Gottesman, I. I. & Shields, J. (1982) Schizophrenia: the Epigenetic Puzzle. Cambridge: Cambridge University Press.Google Scholar
Green, J. R. & Woodrow, J. C. (1977) Sibling method for detecting HLA linked genes in diseases. Tissue Antigens, 9, 31–35.Google Scholar
Kunkel, L. M., Smith, K. D., Boyer, S. H., et al (1977) Analysis of human Y chromosome variants. Proceedings of the National Academy of Sciences USA, 74, 1245–1249.Google Scholar
Lathrop, G. M., Lalouel, J. M., Julier, C., et al (1984) Strategies for multilocus linkage analysis in humans. Proceedings of the National Academy of Sciences USA, 81, 3443–3446.Google Scholar
McGuffin, P. (1988) Genetics of schizophrenia. In Schizophrenia, the Major Issues (eds Bebbington, P. & McGuffin, P.), pp. 107–126. London: Heinemann.Google Scholar
McGuffin, P., Festenstein, H. & Murray, R. (1983) A family study of HLA and other genetic markers in schizophrenia. Psychological Medicine, 13, 31–43.CrossRefGoogle ScholarPubMed
McGuffin, P., Katz, R. & Aldrich, J. (1986) Past and present state examination: the assessment of ‘lifetime ever’ psychology. Psychological Medicine, 16, 4461–4465.Google Scholar
McGuffin, P., Farmer, A., Harvey, I., et al (1991) A polydiagnostic application of operational criteria in studies of psychotic illness. Archives of General Psychiatry, 48, 764–770.Google Scholar
McGue, M. & Gottesman, I. I. (1989) Genetic linkage in schizophrenia: perspectives from genetic epidemiology. Schizophrenia Bulletin, 15, 453–464.CrossRefGoogle ScholarPubMed
Morton, N. E. (1955) Sequential tests for the detection of linkage. American Journal of Human Genetics, 7, 277–318.Google Scholar
O'Rourke, D. H., Gottesman, I. I., Suarez, B. K., et al (1982) Refutation of the single locus model in the aetiology of schizophrenia. American Journal of Human Genetics, 33, 630–649.Google Scholar
Ott, J. (1985) Analysis of Human Genetic Linkage. Baltimore: Johns Hopkins University Press.Google Scholar
Ott, J. (1991) Analysis of Human Genetic Linkage (2nd edn). Baltimore: Johns Hopkins University Press.Google Scholar
Page, D. C., Bieker, K., Brown, L. G., et al (1987) Linkage, physical mapping and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics, 1, 243–256.Google Scholar
Penrose, L. S. (1945) Survey of cases of familial mental illness. Reproduced (1991), European Archives of Psychiatry and Clinical Neuroscience, 240, 315–324.CrossRefGoogle Scholar
Risch, N. (1991) A note on multiple testing procedures in linkage analysis. American Journal of Human Genetics, 48, 1058–1064.Google Scholar
Sandkuhl, L. A. (1989) Analysis of affected sib pairs using information from extended families. Progress in Biological Research, 392, 117–122.Google Scholar
Schulz, B. (1932) Zur Erbpathologie der Schizophreniae. Zeitschrift fur die Gesammte Neurologie und Psychiatriae, 143, 175–293.Google Scholar
Southern, E. M. (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. Journal of Molecular Biology, 98, 503–517.Google Scholar
Spitzer, R. L., Endicott, J. & Robins, E. (1978) Research Diagnostic Criteria for a Selected Group of Functional Disorders (3rd edn). New York: New York State Psychiatric Institute.Google Scholar
Sturt, E. & Shur, E. (1985) Sex concordance for schizophrenia in proband–rdative pairs. British Journal of Psychiatry, 147, 44–47.Google Scholar
Sturt, E. & McGuffin, P. (1985) Can linkage and marker association resolve the genetic aetiology of psychiatric disorders: review and argument. Psychological Medicine, 15, 455–462.CrossRefGoogle ScholarPubMed
Suarez, B. K. & van Eerdewegh, P. (1984) A comparison of three affected sib-pair methods to detect HLA-linked disease susceptibility genes. American Journal of Human Genetics, 18, 135–146.Google Scholar
Tsuang, M. T. (1967) A study of pairs of siblings both hospitalised for mental disorders. British Journal of Psychiatry, 113, 283–300.Google Scholar
von Zehnder, M. (1941) Uber Krankheitsbild und Krankheitsverlauf bei schizophrenen Geschwistern. Monatsschrift fur Psychiatrie und Neurologie, 103, 231–277.Google Scholar
Wing, J. K., Cooper, J. E. & Sartorius, N. (1974) Description and Classification of Psychiatric Symptoms. Cambridge: Cambridge University Press.Google Scholar
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