A CAG trinucleotide repeat expansion and familial schizophrenia.

Abstract:

:Studies which showed anticipation in families with schizophrenia suggested that a trinucleotide repeat expansion mechanism may be involved in the pathogenesis of familial schizophrenia. Furthermore, some studies involving the repeat expansion detection (RED) method showed the median length of CAG repeats to be longer in probands with schizophrenia than that in control subjects. We screened for a possible expanded CAG repeat by means of the direct identification of repeat expansion and cloning technique in 23 subjects (affected, 14; unaffected, 9) from six families with schizophrenia which showed anticipation. The polymorphism of a long and unstable CAG/CTG trinucleotide repeat, Dir1, was studied by PCR. No unusual expanded CAG/CTG trinucleotide repeat was detected in the subjects with familial schizophrenia. There was no significant difference between the affected and unaffected subjects in the allele frequency of Dir1. Our results suggest that a CAG expansion is not the mechanism underlying familial schizophrenia.

journal_name

Psychiatry Res

journal_title

Psychiatry research

authors

Ohara1 K,Ikeuchi T,Suzuki Y,Ohtani M,Ohara K,Tsuji S

doi

10.1016/s0165-1781(00)00156-6

subject

Has Abstract

pub_date

2000-07-17 00:00:00

pages

257-62

issue

3

eissn

0165-1781

issn

1872-7123

pii

S0165178100001566

journal_volume

94

pub_type

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