Segregation Analysis Using the Unified Model

Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1666)

Abstract

Segregation analysis is a basic tool in human genetics. It is a statistical method to determine if a trait, continuous or binary, has a transmission pattern in pedigrees that is consistent with Mendelian segregation. Major locus segregation is combined together with multifactorial/polygenic inheritance in the unified model. Segregation analysis as a procedure to identify the presence of segregation at a major Mendelian locus, with/without multifactorial inheritance, is introduced in this chapter. It is illustrated with the program SEGREG in the Statistical Analysis for Genetic Epidemiology (S.A.G.E.) package, which can use either regressive models or the finite polygenic mixed model to incorporate the multifactorial/polygenic component.

Key words

Segregation analysis Unified model Multifactorial inheritance Polygenic variance Familial correlation Multivariate mixed model S.A.G.E. Mendelian transmission Susceptibility Phenotypic distribution Binary trait Quantitative trait 

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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  1. 1.Department of Population and Quantitative Health SciencesCase Western Reserve University School of MedicineClevelandUSA

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