Chapter 062. Principles of Human Genetics (Part 26)

Table 62-8 Genetic Approaches for Identifying Disease Genes Method Indications Advantages and Limitations Linkage Studies Classical linkage analysis Analysis of Difficult to collect (parametric monogenic traits large informative pedigrees methods) Suitable for genome scan Difficult to obtain sufficient statistical power for complex traits Control not required population Useful for multifactorial disorders in isolated populations Allele-sharing Suitable for Difficult to collect methods (nonparametric identification methods) susceptibility genes of sufficient number of subjects in polygenic and multifactorial disorders Affected sib and relative pair analyses scan Suitable for genome . | Chapter 062. Principles of Human Genetics Part 26 Table 62-8 Genetic Approaches for Identifying Disease Genes Method Indications Advantages and Limitations Linkage Studies Classical linkage analysis parametric Analysis monogenic traits of Difficult to collect large informative pedigrees methods Suitable for genome scan Difficult to obtain sufficient statistical power for complex traits Control population not required Useful for multifactorial disorders in isolated populations Allele-sharing methods nonparametric methods Suitable for identification of susceptibility genes in polygenic and multifactorial disorders Difficult to collect sufficient number of subjects Affected sib and relative pair analyses Suitable for genome scan Difficult to obtain sufficient statistical power for complex traits Sib pair analysis Control population not required if allele frequencies are known Reduced power compared to classical linkage but not sensitive to specification of genetic mode Statistical power can be increased by including parents and relatives Association Studies Case-control studies Suitable for identification of susceptibility genes in polygenic and multifactorial disorders Requires large sample size and matched control population Linkage Suitable for testing False-positive .

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