Genetic mapping of quantitative trait loci for disease-related phenotypes

Marcella Devoto, Mario Falchi

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Citations (Scopus)

Abstract

Quantitative variation underlies normal as well as pathological traits, and large part of this variability is under the control of genetic loci. Thanks to a better understanding of the extent and nature of human genetic variability and the subsequent availability of an increasing number of genetic markers, genetic mapping of several such quantitative trait loci, or QTLs, has been accomplished in the past 20 years or so using linkage and association analysis in family-based and population-based studies. Rather than alternative, such methods are complementary as each has optimal power of detecting genetic variants underlying variability of quantitative traits under different scenarios defined by the QTL allele frequencies and magnitude of genetic effects. We describe how to apply such analyses to whole-genome or candidate-gene genetic marker data to correlate genetic variability to quantitative trait variability for the purpose of gene mapping and identification.

Original languageEnglish
Title of host publicationQuantitative Trait Loci (QTL)
Subtitle of host publicationMethods and Protocols
EditorsScott A. Rifkin
Pages281-311
Number of pages31
Volume871
ISBN (Electronic) 9781617797859
DOIs
Publication statusPublished - 28 Mar 2012

Publication series

NameMethods in Molecular Biology
PublisherSpringer
ISSN (Print)1064-3745

Keywords

  • Gene Frequency
  • Genetic Linkage
  • Humans
  • Phenotype
  • Quantitative Trait Loci

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