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Keywords:

  • bipolar affective disorder;
  • unipolar affective disorder;
  • anticipation;
  • CAG repeats;
  • repeat expansion detection method;
  • ERDA1;
  • CTG18.1

Abstract

The purpose of the present study was to further test if expanded CAG repeats detected by the repeat expansion detection (RED) method in bipolar affective disorder (BPAD) are correlated with ERDA1 (17q21.3) and/or CTG18.1 (18q21.1) loci expansions, and changes of phenotype severity in successive generations (anticipation). The sample was designed to analyze ERDA1 and CTG18.1 expansions in trans-generational pairs of affected individuals (parent–offspring pairs: G1 and G2). Clinical and genetic information was available on 95 two-generations pairs. We found in our sample no one patient carrying an expanded allele at the CTG18.1 locus. This observation is true for all individuals in G1 and G2. Using the conditional logistic regression, no statistical difference was observed between the two generations for ERDA1 alleles (χ2 = 0.2, P = 0.65). These data do not support the correlation between expanded RED products (RED fragments >120) and expanded alleles at ERDA1 in trans-generational pairs with BPAD. We were not able to detect any correlation for CTG18.1. Earlier age at onset in offspring generation was also not associated with expanded RED products explained by expanded ERDA1 alleles. © 2004 Wiley-Liss, Inc.