Look over the 10 diseases approved for genetic health risk assessment listed in Application Chapter B. Select one disease other than the three discussed in Application Chapter B or in this chapter (alpha-1 antitrypsin deficiency, late-onset Alzheimer disease, and celiac disease) or another of the diseases of your choice. Do a brief Internet search to find and download (1) one article for a nonscientific audience identifying the gene or genes whose alleles are associated with occurrence of the disease and (2) one scientific paper that provides data supporting the association of specific alleles of the gene or genes with the disease. Write a short summary combining the information contained in the two papers.
Ch. 20 - Population Genetics and Evolution at the Population, Species, and Molecular Levels

Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
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Sanders 3rd Edition
Ch. 20 - Population Genetics and Evolution at the Population, Species, and Molecular Levels
Problem D.2
Sanders 3rd Edition
Ch. 20 - Population Genetics and Evolution at the Population, Species, and Molecular Levels
Problem D.2Chapter 20, Problem D.2
What insights have analyses of human mitochondrial DNA provided into our recent evolutionary past?
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Understand that mitochondrial DNA (mtDNA) is inherited maternally and does not undergo recombination, making it a powerful tool for tracing maternal lineages over time.
Recognize that by comparing mtDNA sequences from diverse human populations, scientists can construct phylogenetic trees that reveal relationships and estimate the timing of common ancestors.
Learn that analyses of mtDNA have supported the 'Out of Africa' hypothesis, indicating that all modern humans share a recent common maternal ancestor who lived in Africa approximately 100,000 to 200,000 years ago.
Explore how mtDNA variation helps identify population bottlenecks, migrations, and expansions in human history, providing insights into how humans dispersed across the globe.
Note that mtDNA studies complement other genetic data and fossil evidence, together building a comprehensive picture of recent human evolutionary history.

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Key Concepts
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Mitochondrial DNA (mtDNA) Characteristics
Mitochondrial DNA is a small, circular genome inherited maternally without recombination, making it a useful tool for tracing maternal lineages. Its high mutation rate allows for the detection of genetic differences over relatively short evolutionary timescales.
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Mitochondrial Eve and Human Evolution
Analyses of mtDNA have led to the concept of 'Mitochondrial Eve,' the most recent common maternal ancestor of all living humans, estimated to have lived in Africa about 150,000 to 200,000 years ago. This supports the 'Out of Africa' model of recent human evolution.
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Population Genetics and Human Migration
mtDNA variation patterns help reconstruct human migration routes and population expansions by revealing genetic diversity and lineage splits. These analyses provide insights into how modern humans dispersed globally and adapted to different environments.
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Textbook Question
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Why might mitochondrial, Y chromosome, and autosomal DNA provide different perspectives on our evolutionary past, for example, with respect to our relationship with Neanderthals?
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What lines of evidence support the hypothesis that modern humans evolved in Africa and then subsequently migrated throughout the globe?
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