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Segregation Analysis Using the Unified Model.

Xiangqing Sun1

  • 1Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Wolstein Research Building, 2103 Cornell Road, Cleveland, OH, 44106-7281, USA. x.sun@case.edu.

Methods in Molecular Biology (Clifton, N.J.)
|October 6, 2017
PubMed
Summary
This summary is machine-generated.

Segregation analysis uses statistical methods to identify Mendelian inheritance patterns in human genetics. This chapter introduces a unified model combining major locus segregation with multifactorial inheritance, illustrated using the SEGREG program.

Keywords:
Binary traitFamilial correlationMendelian transmissionMultifactorial inheritanceMultivariate mixed modelPhenotypic distributionPolygenic varianceQuantitative traitS.A.G.E.Segregation analysisSusceptibilityUnified model

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Area of Science:

  • Human Genetics
  • Statistical Genetics
  • Genetic Epidemiology

Background:

  • Segregation analysis is a fundamental statistical tool in human genetics.
  • It assesses whether observed trait transmission patterns in pedigrees align with Mendelian segregation principles.
  • Existing methods often need to integrate multifactorial/polygenic inheritance alongside major locus effects.

Purpose of the Study:

  • To introduce a unified model for segregation analysis.
  • To identify the presence of major Mendelian locus segregation, with or without multifactorial inheritance.
  • To demonstrate the application of this model using the SEGREG program within the S.A.G.E. package.

Main Methods:

  • Employs a statistical approach to analyze trait transmission patterns in human pedigrees.
  • Integrates major locus segregation with multifactorial/polygenic inheritance within a unified statistical framework.
  • Utilizes the SEGREG program, which offers both regressive and finite polygenic mixed models for incorporating multifactorial components.

Main Results:

  • The chapter introduces a comprehensive procedure for segregation analysis.
  • The SEGREG program facilitates the combined analysis of major locus and multifactorial inheritance.
  • The methodology allows for the detection of Mendelian segregation in the presence of complex genetic architectures.

Conclusions:

  • Segregation analysis is a versatile tool for dissecting genetic transmission.
  • The unified model and SEGREG program provide a robust framework for human genetic studies.
  • This approach enhances the ability to identify major genes influencing traits, considering underlying polygenic influences.