14: Linkage Studies, Pedigrees, and Population Genetics

Last updated
Save as PDF

Page ID: 38035

\( \newcommand{\vecs}[1]{\overset { \scriptstyle \rightharpoonup} {\mathbf{#1}} } \) \( \newcommand{\vecd}[1]{\overset{-\!-\!\rightharpoonup}{\vphantom{a}\smash {#1}}} \)\(\newcommand{\id}{\mathrm{id}}\) \( \newcommand{\Span}{\mathrm{span}}\) \( \newcommand{\kernel}{\mathrm{null}\,}\) \( \newcommand{\range}{\mathrm{range}\,}\) \( \newcommand{\RealPart}{\mathrm{Re}}\) \( \newcommand{\ImaginaryPart}{\mathrm{Im}}\) \( \newcommand{\Argument}{\mathrm{Arg}}\) \( \newcommand{\norm}[1]{\| #1 \|}\) \( \newcommand{\inner}[2]{\langle #1, #2 \rangle}\) \( \newcommand{\Span}{\mathrm{span}}\) \(\newcommand{\id}{\mathrm{id}}\) \( \newcommand{\Span}{\mathrm{span}}\) \( \newcommand{\kernel}{\mathrm{null}\,}\) \( \newcommand{\range}{\mathrm{range}\,}\) \( \newcommand{\RealPart}{\mathrm{Re}}\) \( \newcommand{\ImaginaryPart}{\mathrm{Im}}\) \( \newcommand{\Argument}{\mathrm{Arg}}\) \( \newcommand{\norm}[1]{\| #1 \|}\) \( \newcommand{\inner}[2]{\langle #1, #2 \rangle}\) \( \newcommand{\Span}{\mathrm{span}}\)\(\newcommand{\AA}{\unicode[.8,0]{x212B}}\)

Learning objectives

Linkage studies and pedigrees

Interpret a pedigree for type of inheritance.
Describe how Mendelian disease genes are identified by linkage mapping.

Population genetics

Perform simple Hardy-Weinberg calculations for autosomal recessive disease.
Recognize populations that are not in Hardy-Weinberg equilibrium.
Understand the following terms related to genetic variation: polymorphism, SNP, haplotype, HapMap.

Single gene inheritance is also referred to as Mendelian inheritance and follows transmission patterns he observed in his research on peas. These are the most basic patterns of inheritance, and within each category, there can be nuances of disease presentation. The frequency of these disorders in populations can be determined using Hardy-Weinberg calculations.

It is important to remember that these inheritance patterns are not characteristic of all genetic traits, and there are many factors that influence an individual's phenotype.

Thumbnail: Grey, Kindred, Chapter 14. 2021. CC BY-SA 4.0. Adapted from Mitochondrial inheritance by Domaina, Angelito7 and SUM1. CC BY-SA 4.0. From Wikimedia commons.