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Book Cover
E-book
Author Donaldson, Peter

Title Genetics of Complex Disease
Published New York : Taylor & Francis Group, 2015

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Description 1 online resource (429 pages)
Contents Cover -- Half Title -- Title Page -- Copyright Page -- Contents -- Preface -- Acknowledgments -- Chapter 1: Genetic Diversity -- 1.1 Genetic Terminology -- The use of the terms genes and alleles varies, though they do have precise definitions -- 1.2 Genetic Variation -- Genetic variation can be measured by several methods -- Alleles on the same chromosome are physically linked and inherited as haplotypes -- Linkage disequilibrium promotes conservation of haplotypes in populations -- 1.3 Genetics and Evolution -- Mutation is the major cause of genetic variation
Genetic variation caused by mutation alters allele frequencies in populations -- Migration and dispersal cause gene flow -- Allele frequencies can change randomly via genetic drift -- The thrifty gene hypothesis -- Natural selection acting on different levels of fitness affects the gene pool -- 1.4 Calculating Genetic Diversity: Determining Population Variability -- Genotype and allele frequencies illustrate genetic diversity -- Allele frequency refers to the numbers of alleles present in a population -- Heterozygosity provides a quantitative estimation of genetic variation
The HWP is a complex but essential concept in population genetics -- Calculating expected genotype frequencies using the HWP -- Different populations may have different allele frequencies -- 1.5 Population Size and Structure -- Breeding population size is important in evolution -- Genetic variation is not always uniform in a population -- Wahlund's principle -- 1.6 The Mitochondrial Genome -- 1.7 Gene Expression and Phenotype -- Genetic variation is manifested in the phenotype -- Phenotypes are influenced by the environment -- 1.8 Epigenetics -- 1.9 Genomic Imprinting -- Conclusions
Further Reading -- Chapter 2: Defining Complex Disease -- 2.1 Definition of a Genetically Complex Disease -- To fully understand complex disease it is important to deconstruct this definition -- 2.2 Chromosomal Diseases -- Changes in chromosome number cause serious genetic diseases -- Changes in chromosome structure can cause serious illness -- 2.3 Mendelian Diseases -- Mendelian diseases involve a single gene and show simple patterns of inheritance -- Penetrance is an important difference between Mendelian and complex diseases -- Some diseases have both Mendelian and complex characteristics
Modifier genes may also confuse the picture -- Mendelian traits can be studied in families -- There are complications to Mendelian diseases -- 2.4 Variation in The Mitochondrial Genome is Associated with Disease -- Variation in the mtDNA has been widely associated and linked with many different diseases -- 2.5 De Novo Mutations and Human Disease -- 2.6 Three Different Types of Complex Disease -- Studying complex disease is different from studying Mendelian disease -- Monogenic complex diseases involve a single risk allele -- Oligogenic complex diseases involve several alleles
Notes Polygenic complex diseases involve many risk alleles
Print version record
Subject Genetic disorders.
Disease susceptibility.
Genetic Diseases, Inborn
Disease Susceptibility
Disease susceptibility.
Genetic disorders.
Form Electronic book
Author Daly, Ann
Ermini, Luca
Bevitt, Debra
ISBN 9781317334255
1317334256
9780429258688
0429258682
9780815344919
0815344910