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Chapter One Outline
Chapter One Outline

...  The fetal immune system actively rids of redundant gene segments, meaning the genome is “active” and not so stable. (ch.15) (and remember transposons in ch. 10)  Uniqueness of immune system genetic makeup: MHC proteins and T-cell receptors (ch. 15). This suggests that the exons (from parts of ant ...
the Note
the Note

... chromosome pair and the dominant characteristic is seen in the homozygous and heterozygous state. Gene mutation: a change of one or more bases in the nuclear DNA of an organism. Gene pool: the sum of all the genes present in one population. Gene therapy: a process where a mutant gene is masked or re ...
Milestones - Fondazione Diritti Genetici
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Pharmacogenomics Principles and Concepts
Pharmacogenomics Principles and Concepts

... Alternative forms at a genetic locus on one chromosome Most loci – humans have 2 chromosomes which carry the same or 2 different alleles One of several variants of a gene z Usually specific site within a gene ...
Natural Selection
Natural Selection

... In addition to natural selection, chance and random events can influence the evolutionary process, especially for small populations. ...
MCB142/IB163 (Thomson) Mendelian and population genetics Fall
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Evolution of Populations
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On Mapping the Human Genome
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Introduction to Ecology and Evolutionary Biology

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... by natural selection. 7. When one extreme phenotype is favored by natural selection. 8. When both extreme phenotypes are favored by natural selection. 9. The combined alleles of all the individuals in a population. 10. Feature that allows an organism to survive better in its environment. 11. Process ...
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Human genetic variation



Human genetic variation is the genetic differences both within and among populations. There may be multiple variants of any given gene in the human population (genes), leading to polymorphism. Many genes are not polymorphic, meaning that only a single allele is present in the population: the gene is then said to be fixed. On average, in terms of DNA sequence all humans are 99.9% similar to any other humans.No two humans are genetically identical. Even monozygotic twins, who develop from one zygote, have infrequent genetic differences due to mutations occurring during development and gene copy-number variation. Differences between individuals, even closely related individuals, are the key to techniques such as genetic fingerprinting. Alleles occur at different frequencies in different human populations, with populations that are more geographically and ancestrally remote tending to differ more.Causes of differences between individuals include the exchange of genes during meiosis and various mutational events. There are at least two reasons why genetic variation exists between populations. Natural selection may confer an adaptive advantage to individuals in a specific environment if an allele provides a competitive advantage. Alleles under selection are likely to occur only in those geographic regions where they confer an advantage. The second main cause of genetic variation is due to the high degree of neutrality of most mutations. Most mutations do not appear to have any selective effect one way or the other on the organism. The main cause is genetic drift, this is the effect of random changes in the gene pool. In humans, founder effect and past small population size (increasing the likelihood of genetic drift) may have had an important influence in neutral differences between populations. The theory that humans recently migrated out of Africa supports this.The study of human genetic variation has both evolutionary significance and medical applications. It can help scientists understand ancient human population migrations as well as how different human groups are biologically related to one another. For medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in people from specific geographic regions. New findings show that each human has on average 60 new mutations compared to their parents.Apart from mutations, many genes that may have aided humans in ancient times plague humans today. For example, it is suspected that genes that allow humans to more efficiently process food are those that make people susceptible to obesity and diabetes today.
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