18. Confirmation of Single Nucleotide Mutations

  1. Weikuan Gu2 and
  2. Yongjun Wang3
  1. Jochen Graw

Published Online: 10 FEB 2012

DOI: 10.1002/9780470933947.ch18

Gene Discovery for Disease Models

Gene Discovery for Disease Models

How to Cite

Graw, J. (2011) Confirmation of Single Nucleotide Mutations, in Gene Discovery for Disease Models (eds W. Gu and Y. Wang), John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/9780470933947.ch18

Editor Information

  1. 2

    Department of Orthopedic Surgery—Campbell Clinic, University of Tennessee Health Science Center, Memphis, TN, USA

  2. 3

    Beijing Tiantan Hospital, Capital Medical University, Beijing, China

Author Information

  1. Helmholtz Center Munich, German Research Center for Environmental Health, Institute of Developmental Genetics, Neuherberg, Germany

Publication History

  1. Published Online: 10 FEB 2012
  2. Published Print: 21 MAR 2011

ISBN Information

Print ISBN: 9780470499467

Online ISBN: 9780470933947



  • single nucleotide mutation confirmation;
  • initial confirmation by co-segregation in family-causative mutation - co-segregating with disease in family;
  • next-generation sequencing techniques - fast sequencing of entire individual genomes at low prices


This chapter contains sections titled:

  • Introduction: Why Single Nucleotide Mutations Are Difficult to Confirm

  • Initial Confirmation by Co-Segregation in the Family

  • Second Confirmation by Population Screening

  • Third Confirmation by Expression Analysis and Functional Studies in Model Systems

  • Recapitulation of Human Mutations in Animal Models

  • Conclusions and Outlook

  • Acknowledgments

  • Questions and Answers

  • References