14. Determination of the Function of a Mutation

  1. Weikuan Gu3 and
  2. Yongjun Wang4
  1. Bouchra Edderkaoui1,2

Published Online: 10 FEB 2012

DOI: 10.1002/9780470933947.ch14

Gene Discovery for Disease Models

Gene Discovery for Disease Models

How to Cite

Edderkaoui, B. (2011) Determination of the Function of a Mutation, in Gene Discovery for Disease Models (eds W. Gu and Y. Wang), John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/9780470933947.ch14

Editor Information

  1. 3

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

  2. 4

    Beijing Tiantan Hospital, Capital Medical University, Beijing, China

Author Information

  1. 1

    School of Medicine, Loma Linda University, Loma Linda, CA, USA

  2. 2

    Musculoskeletal Disease Center, JLP Memorial VA Medical Center, Loma Linda, CA, USA

Publication History

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

ISBN Information

Print ISBN: 9780470499467

Online ISBN: 9780470933947



  • mutation function determination - mutation, permanent changes in DNA sequence, quantitative trait locus (QTL), polymorphic locus containing alleles;
  • mutation effects on function of gene-candidate mutation - identified through linkage, candidate gene, and/or bioinformatics analyses;
  • effect of mutation on gene function - mechanism, by which a mutation affects a specific phenotype


This chapter contains sections titled:

  • Introduction

  • Concept of Quantitative Trait Loci

  • How to Determine if a Mutation is Functional

  • Effect of Mutations on the Function of the Gene

  • General Strategy to Assess the Effect of a Mutation on the Function of a Gene and the Observed Phenotypic Variations

  • Questions and Answers

  • References