Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia

J Hum Genet. 2009 Jul;54(7):386-91. doi: 10.1038/jhg.2009.47. Epub 2009 May 22.

Abstract

It is suggested that chromosome 18p11 is a susceptibility region for both bipolar disorder and schizophrenia. Aiming to identify susceptibility gene(s), we investigated a family whose members have either schizophrenia or schizophrenia-spectrum psychosis and carried a t(18;21)(p11.1;p11.1) translocation. Fluorescence in situ hybridization showed that the breakpoint on chromosome 21 was localized to a bacterial artificial chromosome (BAC) clone RP11-2503J9, which contained coding sequences for transmembrane phosphatase with tensin homology, although this gene was not disrupted. On chromosome 18p, the break point was narrowed to BAC clone RP11-527H14. In silico sequence analysis of this clone identified possible pseudo genes and gene fragments but no intact genes. RP11-527H14 also showed sites of cross hybridization, including 21p11.1. To test for a position effect on 18p11 sequences translocated to 21p11, we performed quantitative RT-PCR to measure the expression of the candidate gene C18orf1 in translocation carriers, but found no significant differences from controls in lymphoblastoid cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 18 / genetics*
  • Chromosomes, Human, Pair 21 / genetics*
  • Clone Cells
  • Computational Biology
  • Exons / genetics
  • Expressed Sequence Tags
  • Family
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Membrane Proteins / genetics
  • Pedigree
  • Reverse Transcriptase Polymerase Chain Reaction
  • Schizophrenia / genetics*
  • Translocation, Genetic / genetics*

Substances

  • LDLRAD4 protein, human
  • Membrane Proteins