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Updated: Jun 23, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia
Joanne M A Meerabux1, Hisako Ohba, Yoshimi Iwayama
1Laboratory for Molecular Psychiatry, RIKEN, Brain Science Institute, Saitama, Japan.
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.
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