Human Genetics

, Volume 95, Issue 4, pp 437–439 | Cite as

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation

  • Andreas Winterpacht
  • Katja Hilbert
  • Ulrike Schwarze
  • Bernhard Zabel
Short Communication
Received:

Abstract

We have developed a protocol that allows fast and efficient mutation screening of the 54 exons from the type II procollagen (COL2A1) gene. The protocol is based on the multiple non-radioactive hybridization of blotted single-strand conformation polymorphism gels. Using this screening procedure we have been able to identify a new (Gly895 to Ser) mutation in the COL2A1 gene of a patient with a mild form of spondyloepiphyseal dysplasia congenita.

Keywords

Internal Medicine Metabolic Disease Mild Form Screening Procedure Mutation Screening 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Andreas Winterpacht
    • 1
  • Katja Hilbert
    • 1
  • Ulrike Schwarze
    • 1
  • Bernhard Zabel
    • 1
  1. 1.Children's Hospital, University of MainzMainzGermany

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