Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2

Ann E Pulver, Maria Karayiorgou, Virginia K. Lasseter, Paula Wolyniec, Laura Kasch, Stylianos Antonarakis, David Housman, Haig H. Kazazian, Deborah Meyers, Gerald Nestadt, Jurg Ott, Kung-Yee Liang, Malgorzata Lamacz, Marion Thomas, Barton Childs, Scott R. Diehl, Shengbiao Wang, Bernadette Murphy, Cui e. Sun, F. Anthony O'NeillLi Nie, Pak Sham, John Burke, Betty W. Duke, Fiona Duke, Barbara R. Kipps, Joseph Bray, Wanda Hunt, Rosmarie Shinkwin, Maurin Ni Nuallain, Ying Su, Charles J. MacLean, Dermot Walsh, Kenneth S. Kendler, Michael Gill, Homero Vallada, Rebecca Mant, Philip Asherson, David Collier, Elizabeth Parfitt, Enriquetta Roberts, Shin Nanko, Cathy Walsh, Johanna Daniels, Robin Murray, Peter McGuffin, Mike Owen, Claudine Laurent, Jean Baptiste Dumas, Thierry d'Amato, Maurice Jay, Maria Martinez, Dominique Campion, Jacques Mallet

Research output: Contribution to journalArticlepeer-review


A collaboration involving four groups of investigators (Johns Hopkins University/Massachusetts Institute of Technology; Medical College of Virginia/The Health Research Board, Dublin; Institute of Psychiatry, London/University of Wales, Cardiff; Centre National de la Recherche Scientifique, Paris) was organized to confirm results suggestive of a schizophrenia susceptibility locus on chromosome 22 identified by the JHU/MIT group after a random search of the genome. Diagnostic, laboratory, and analytical reliability exercises were conducted among the groups to ensure uniformity of procedures. Data from genotyping of 3 dinucleotide repeat polymorphisms (at the loci D22S268, IL2RB, D22S307) for a combined replication sample of 256 families, each having 2 or more affected individuals with DNA, were analysed using a complex autosomal dominant model. This study provided no evidence for linkage or heterogeneity for the region 22q12-q13 under this model. We conclude that if this region confers susceptibility to schizophrenia, it must be in only a small proportion of families. Collaborative efforts to obtain large samples must continue to play an important role in the genetic search for clues to complex psychiatric disorders such as schizophrenia.

Original languageEnglish (US)
Pages (from-to)44-50
Number of pages7
JournalAmerican journal of medical genetics
Issue number1
StatePublished - 1994


  • collaboration
  • human chromosome 22
  • linkage
  • replication
  • schizophrenia

ASJC Scopus subject areas

  • Genetics(clinical)


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