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Lecture Genetics: From genes to genomes - Chapter 11: Genome-wide variation and trait analysis

Chapter 11 - Genome-wide variation and trait analysis. This chapter presents the following content: Genetic variation among individual genomes, single nucleotide polymorphisms (SNPs) and small-scale-length variations, deletions or duplications of a DNA region, positional cloning: from DNA markers to disease-causing genes, genome-wide association studies. | PowerPoint to accompany Genetics: From Genes to Genomes Fourth Edition Leland H. Hartwell, Leroy Hood, Michael L. Goldberg, Ann E. Reynolds, and Lee M. Silver Prepared by Mary A. Bedell University of Georgia Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display PART III Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th edition, Chapter 11 Genome-Wide Variation and Trait Analysis 11.1 Genetic Variation Among Individual Genomes 11.2 Single Nucleotide Polymorphisms (SNPs) and Small-Scale-Length Variations 11.3 Deletions or Duplications of a DNA Region 11.4 Positional Cloning: From DNA Markers to Disease-Causing Genes 11.5 Complex Traits 11.6 Genome-Wide Association Studies What Genes Are and What They Do CHAPTER OUTLINE CHAPTER Extensive allelic variation distinguishes individuals within a species 1950s – first demonstrations that presumed "wild-type" individuals of the same species produced variant forms of proteins Gel electrophoresis of proteins Variety of species (Drosophila to human) Recent sequencing of individual genomes revealed that humans have staggering degree of sequence variants Polymorphic locus – locus with two or more alleles that are each present in >1% of a species' members Genetic variants – alleles of polymorphic loci Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th edition, Chapter 11 Extensive allelic variation distinguishes individuals within a species (cont) Original views of a locus and alleles have changed with availability of whole genome sequences and evidence for extensive genetic variation New definition of a locus – any location in the genome that is defined by chromosomal coordinates Can have multiple genes or no genes Can be a single base pair or millions of base pairs New definition of an allele – any variation in the DNA sequence, even if it doesn't have an effect | PowerPoint to accompany Genetics: From Genes to Genomes Fourth Edition Leland H. Hartwell, Leroy Hood, Michael L. Goldberg, Ann E. Reynolds, and Lee M. Silver Prepared by Mary A. Bedell University of Georgia Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display PART III Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th edition, Chapter 11 Genome-Wide Variation and Trait Analysis 11.1 Genetic Variation Among Individual Genomes 11.2 Single Nucleotide Polymorphisms (SNPs) and Small-Scale-Length Variations 11.3 Deletions or Duplications of a DNA Region 11.4 Positional Cloning: From DNA Markers to Disease-Causing Genes 11.5 Complex Traits 11.6 Genome-Wide Association Studies What Genes Are and What They Do CHAPTER OUTLINE CHAPTER Extensive allelic variation distinguishes individuals within a species 1950s – first demonstrations that presumed "wild-type" individuals of the same .