Introduction

In recent years, genetic study of complex human traits has increased dramatically. Most human diseases are now viewed as having some genetic component, and considerable effort is being made to find and study the genes involved. As a result, statistical methods used to find disease genes are receiving a great deal of attention, and improvements in methodology are continually being proposed. In this article we provide an overview of genetic mapping methods. We first explain concepts in genetic inheritance, focusing primarily on the genetic mechanisms that investigators exploit in genetic mapping, and introduce relevant terminology. We then introduce the reader to the two main areas of mapping methodology: genetic linkage analysis and linkage disequilibrium mapping.

* Correspondence to: Jane M. Olson, Department of Epidemiology and Biostatistics, Rammelkamp Center for Education and Research, 2500 MetroHealth Drive, Case Western Reserve University, Cleveland, Ohio 44109, U.S.A. E-mail: [email protected]

Contract/grant sponsor: National Center for Human Genome Research Contract/grant number: HG01577

Contract/grant sponsor: National Center for Research Resources Contract/grant number: PR03655

Contract/grant sponsor; National Cancer Institute Contract/grant number: CA73270

Contract/grant sponsor: National Institute of General Medical Sciences Contract/grant number: GM28345

Tutorials in Biostatistics Volume 2: Statistical Modelling of Complex Medical Data Edited by R. B. D'Agostino © 2004 John Wiley & Sons, Ltd. ISBN: 0-470-02370-8

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