Linkage Analysis of Qualitative Traits

  • Mingyao LiEmail author
  • Gonçalo R. Abecasis


Linkage analysis of pedigree data is a powerful tool for mapping genomic regions that are likely to contain genes influencing human diseases. In this chapter, we will first introduce concepts and rationale of linkage analysis. Following this, we will then describe in detail two major types of linkage analysis strategies: model-based and model-free linkage analysis methods for qualitative traits. We will illustrate practical issues with linkage analysis by analysis of a real dataset collected from an age-related macular degeneration study. We will also describe how to identify the single nucleotide polymorphisms (SNPs) that account for linkage signal after linkage analysis is conducted. Finally, we will compare model-based and model-free linkage analysis methods and various software packages.


Linkage Analysis Qualitative Trait Complete Linkage Disequilibrium Linkage Phase Inheritance Vector 
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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We would like to thank Dr. Anand Swaroop for allowing us to present results from the analysis of the AMD data.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2009

Authors and Affiliations

  1. 1.Department of Biostatistics and EpidemiologyUniversity of Pennsylvania School of MedicinePhiladelphiaUSA
  2. 2.Department of Biostatistics, Center for Statistical GeneticsUniversity of Michigan School of Public HealthAnn ArborUSA

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