Abstract
CTG18.1 is a highly polymorphic and unstable CTG repeat within an intron of the SEF2–1 gene. We tested the CTG18.1 repeat length in affective disorder, schizophrenia, and nonspecific ataxia; these diseases all have shown clinical evidence for anticipation. There was no difference in the allele frequencies comparing the controls and disease groups. The most common allele contains 11 CAGs (35%) followed by alleles with 14–17 CAGs (35%). There was no difference in the distribution of the alleles in the cases vs controls for ataxia (P = 0.11), affective disorders (P = 0.21), or schizophrenia (P = 0.26). The frequency of unstable CTG18.1 alleles was approximately 3% in a population of N. European descent and is not related to the phenotypes tested.
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Acknowledgements
This work was supported in part by NARSAD, the Stanley Foundation and NIH grant No. MH 01088. Dr Riess acknowledges Ana Maria Menezes Vieira-Saecker for excellent technical assistance and Professor JT Epplen for support.
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McInnis, M., Swift-Scanlanl, T., Mahoney, A. et al. Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia. Mol Psychiatry 5, 439–442 (2000). https://doi.org/10.1038/sj.mp.4000747
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DOI: https://doi.org/10.1038/sj.mp.4000747
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