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Observable Patterns of Inheritance
Mendelian Genetics
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Early Ideas About Heredity
People knew that sperm and eggs transmitted information about traits Blending theory: offspring were the combination or blend of their parents Problem: Would expect variation to disappear Variation in traits persists
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Gregor Mendel Strong background in plant breeding and mathematics
Using pea plants, found indirect but observable evidence of how parents transmit genes to offspring
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Why The Garden Pea Plant?
Easy to grow Mature Quickly Easily observable, contrasting traits Easy to control pollination
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Mendel’s First Experiment
He crossbred pure tall and pure short plants. These plants were called the parental generation (P). This experiment is called a monohybrid cross because it focuses on only one inherited characteristic. Mendel's Hypothesis: Mendel expected to see offspring plants of medium height.
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Mendel’s First Experiment
The hybrid offspring from P were called first filial generation (F1) Mendel's Observations: all of the offspring were tall Mendel's Conclusion: dominant trait = tallness, recessive trait = shortness, the recessive trait is not expressed in first generation
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Principle of Dominance
The Principle of Dominance: When an organism is hybrid (cross bred) for a pair of contrasting traits, it shows only the dominant trait.
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Mendel’s Second Experiment
Mendel allowed the F1 plants to mature and self-pollinate. Their offspring were called the second filial generation (F2). Mendel's Observations: ¾ of the plants were tall, ¼ of the plants were short
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Mendel’s Second Experiment
Mendel's Conclusion: offspring inherit two “factors” for each characteristic (e.g. height), one from each parent, the F1 DID inherit contrasting factors but only the dominant factor is expressed
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Principle of Segregation
Hereditary characteristics are determined by distinct factors (genes) that occur in pairs. These paired factors segregate from one another and are distributed into different sex cells. Each sex cell has an equal probability of possessing either of the pair.
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Genes Units of information about specific traits
Passed from parents to offspring Each has a specific location (locus) on a chromosome
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Alleles Different molecular forms of a gene Arise by mutation
Dominant allele masks a recessive allele that is paired with it
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Allele Combinations Homozygous having two identical alleles at a locus
AA or aa Heterozygous having two different alleles at a locus Aa
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Genotype & Phenotype Genotype refers to particular genes an individual carries Phenotype refers to an individual’s observable traits Cannot always determine genotype by observing phenotype
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Tracking Generations Parental generation P mates to produce
First-generation offspring F1 mate to produce Second-generation offspring F2
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Impact of Mendel’s Work
Mendel presented his results in 1865 to a small Austrian audience Paper received little notice Mendel discontinued his experiments in 1871 Paper rediscovered in 1900 and finally appreciated
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Earlobe Variation Whether a person is born with attached or detached earlobes depends on a single gene Gene has two molecular forms (alleles)
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Earlobe Variation You inherited one allele for this gene from each parent Dominant allele specifies detached earlobes Recessive allele specifies attached lobes
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Dominant & Recessive Alleles
If you have attached earlobes, you inherited two copies of the recessive allele (rr) If you have detached earlobes, you may have either one or two copies of the dominant allele (RR or Rr)
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Human Variation Some human traits occur as a few discrete types
Attached or detached earlobes Many genetic disorders Other traits show continuous variation Height Weight Eye color
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Handout on human traits
What is your phenotype? What is your genotype?
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r R
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T t
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H h
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W w
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