Skip to main content

Rapid and Sensitive Detection of Heterozygous Deletions of one or more Exons in Hemophilia A Females by Multiplex PCR and DHPLC Technique

  • Conference paper
36th Hemophilia Symposium Hamburg 2005

Conclusions

In conclusion MP/DHPLC technique can reliable identify hemophilia A female carriers, harboring FVIII gene copy number aberrations and it appears to be a powerful tool in genetic concealing of hemophilia families.

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Becker J, Schwaab R, Möller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J (1996) Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type dependent sex ratio of mutation frequencies. Am J Hum Genet 58:657–670.

    PubMed  CAS  Google Scholar 

  2. Armour JA, Barton DE, Cockburn DJ, Taylor GR. The detection of large deletions or duplications in genomic DNA. Hum Mutat 2002;20:325–372.

    Article  PubMed  CAS  Google Scholar 

  3. Oldenburg J, Ivaskevicius V, Rost S, Fregin A, White K, Holinski-Feder E, Muller CR, Weber BH. Evaluation of DHPLC in the analysis of Hemophilia A. J Biochem Biophys Methods. 2001 Jan 30;47(1–2):39–51.

    Article  PubMed  CAS  Google Scholar 

  4. Oefner PJ, Underhill PA. Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC), Am J Hum Genet 57 (1995) A266.

    Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2007 Springer Verlag Berlin Heidelberg

About this paper

Cite this paper

Pavlova, A., Schröder, J., Delev, D., Müller, C.R., Seifried, E., Oldenburg, J. (2007). Rapid and Sensitive Detection of Heterozygous Deletions of one or more Exons in Hemophilia A Females by Multiplex PCR and DHPLC Technique. In: Scharrer, I., Schramm, W. (eds) 36th Hemophilia Symposium Hamburg 2005. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-36715-4_42

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-36715-4_42

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-36714-7

  • Online ISBN: 978-3-540-36715-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics