Skip to main content
Log in

Real-Time PCR Analysis of Trinucleotide Repeat Allele Expansions in the Androgen Receptor Gene

  • Original Research Article
  • Published:
Molecular Diagnosis Aims and scope Submit manuscript

Abstract

Introduction:The expansion of specific trinucleotide repeats results in certain genetic disorders.

Method: Real-time PCR analysis was used to rapidly discriminate between normal and expanded (CAG)n alleles in the androgen receptor gene.

Result: The difference in melting temperature (Tm) between the most common normal and expanded alleles was approximately 1°C.

Conclusion: Real-time PCR analysis seems to be a highly reliable and rapid method, which may facilitate the first molecular approach to human trinucleotide repeat disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Table I
Fig. 1

Similar content being viewed by others

References

  1. Sermon K, Lissens W, Seneca S, et al. Clinical application of preimplantation diagnosis for myotonic dystrophy. Prenat Diagn 1999 Dec; 19(13): 1223–30

    Article  PubMed  CAS  Google Scholar 

  2. Sermon K, De Vos A, Van de Velde H, et al. Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert’s disease). Mol Hum Reprod 1998 Aug; 4(8): 791–6

    Article  PubMed  CAS  Google Scholar 

  3. Sermon K, Goossens V, Seneca S, et al. Preimplantation diagnosis for Huntington’s disease (HD): clinical application and analysis of the HD expansion in affected embryos. Prenat Diagn 1998 Dec; 18(13): 1427–36

    Article  PubMed  CAS  Google Scholar 

  4. Georgiou I, Sermon K, Lissens W, et al. Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA). Hum Genet 2001 Jun; 108(6): 494–8

    Article  PubMed  CAS  Google Scholar 

  5. La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991 Jul 4; 352(6330): 77–9

    Article  PubMed  Google Scholar 

  6. Yapijakis C, Kapaki E, Boussiou M, et al. Prenatal diagnosis of X-linked spinal and bulbar muscular atrophy in a Greek family. Prenat Diagn 1996 Mar; 16(3): 262–5

    Article  PubMed  CAS  Google Scholar 

  7. Sulek A, Hoffman-Zacharska D, Krysa W, et al. CAG repeat polymorphism in the androgen (AR) gene of SBMA patients and a control group. J Appl Genet 2005; 46(2): 237–9

    PubMed  Google Scholar 

  8. Lund A, Udd B, Juvonen V, et al. Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia. Eur J Hum Genet 2000 Aug; 8(8): 631–6

    Article  PubMed  CAS  Google Scholar 

  9. McLean HE, Warne GL, Zajac JD. Spinal and bulbar muscular atrophy: androgen dysfunction caused by a trinucleotide repeat expansion. J Neurol Sci 1996 Feb; 135(2): 149–57

    Article  Google Scholar 

  10. Bingham P, Scott M, Wang S, et al. Stability of an expanded trinucleotide repeats in the androgen receptor gene. Nat Genet 1995 Feb; 9(2): 191–6

    Article  PubMed  CAS  Google Scholar 

  11. Buchanan G, Yang M, Cheong A, et al. Structural and functional consequences of glutamine tract variation in the androgen receptor. Hum Mol Genet 2004 Aug 15; 13(16): 1677–92

    Article  PubMed  CAS  Google Scholar 

  12. Edwards A, Hammond HA, Jin L, et al. Genetic variation at the five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 1992 Feb; 12(2): 241-53

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgements

No sources of funding were used to assist in conducting this study. The authors have no conflicts of interest that are directly relevant to the content of the study.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Ioannis Georgiou.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Chatzikyriakidou, A., Yapijakis, C., Sofikitis, N. et al. Real-Time PCR Analysis of Trinucleotide Repeat Allele Expansions in the Androgen Receptor Gene. CNS Drugs 9, 217–219 (2005). https://doi.org/10.1007/BF03260095

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03260095

Keywords

Navigation