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Single Gene Inheritance
How Traits are Passed On
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Heredity/Classical Genetics
2 Genetics Units Heredity/Classical Genetics Molecular Genetics Inheritance patterns Based on the work of Gregor Mendel in the mid 1800s DNA/Chromosomal explanations for inheritance patterns Defines our modern understandings of genetics
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*Note We are covering the genetics of sexually reproducing mammals
Bacteria/Archaea and asexual eukaryotes are a little different
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Human Chromosomes
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So you have 2 alleles, which determines what you look like??
It depends. This is where genetics starts to get complicated Sometimes only 1 of the 2 alleles gets expressed Sometimes they both express themselves
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Case 1 – Complete Dominance
Only 1 trait is expressed The dominant trait OR the recessive trait is expressed
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Human Examples You have dimples or you don’t
You have freckles or you don’t You are a dwarf or you aren’t You have attached earlobes or you don’t You have cystic fibrosis or you don’t
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Complete Dominance Is expressed if it is present
Dominant Trait Recessive Trait Is expressed if it is present You can have 1 or 2 dominant alleles Represented by capital letters Is expressed only if there is no dominant allele You must have 2 recessive alleles (usually) Represented by lower case letters
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What’s Actually Happening?
One version codes for a functional protein, the other makes nothing If one set of instructions makes enough proteins for the trait to be present, that trait is “dominant” If one set of instructions does not make enough proteins for the trait to be present, that trait is “recessive”
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The Dominant Phenotype
Phenotype = appearance Is shown by individuals who have 1 or 2 dominant alleles Called homozygous dominant (AA) or heterozygous (Aa) genotypes
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The Recessive Phenotype
Is only shown if the individual is homozygous recessive (aa)
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“Genotypes” – Combinations of Alleles
= homozygous dominant (shows dominant trait) =heterozygous (shows dominant trait) = homozygous recessive (shows recessive trait)
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Punnett Square Show the possible alleles each parent could give.
This example shows an Aa (heterozygous) person mating with an aa (homozygous recessive individual) Dad Parent 1 Potential sperm Parent 2 Mom Potential zygotes Potential eggs
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Say A codes for green eyes a codes for black eyes
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Draw a Punnett Square for Two Heterozygotes Mating
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Case 2 If 2 different alleles are both present, their affects are combined i.e. red allele + white allele pink flowers Straight + curly hair Wavy hair
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“Genotypes” – Incomplete Dominance
= AA (red flowers, or straight hair) =Aa (pink flowers, or wavy hair) = aa (white flowers, or curly hair)
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Incomplete Dominance R r Rr R= red allele, r= white allele
RR = red flowers, Rr=pink flowers, rr= white flowers If red flowers are mated with white flowers, what will the offspring be? R r Rr
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What’s actually happening?
One set of instructions produces some proteins, but the fewer proteins cause a change in the phenotype
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Draw a Punnett Square for 2 pink flowers being crossed
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Case 3 Both alleles are expressed at the same time and do not mix/form intermediate
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Codominance E.g. blood types IA and IB alleles are both dominant
There is a 3rd, recessive allele called i (codes for blood type O)
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Blood Types 4 possible types A (IAIA or IAi individuals)
B (IBIB or IBi) individuals AB (IAIB individuals) O (ii individuals)
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What’s Actually Happening
Both sets of instructions code for functional proteins
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What parents could have children with type A or type B blood only?
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Summary You have 2 copies of every gene, one from your mom, one from your dad Which version you express depends on the gene, sometimes only 1 (complete dominance), sometimes a mixture (incomplete dominance) and sometimes both (co-dominant) The “traits” are due to which protein is produced
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X-Linked Genes The X chromosome contains many non-sex related genes
E.g. an important gene for color vision- without individuals suffer color blindness Since males have no second X chromosome, they express whatever allele is present on their single X chromosome Punnett Squares are drawn with XA or Xa to show dominant/recessive traits and Y to represent the Y chromosome
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X-Linked Punnett Square
Eggs XA Xa XAXA XAXa Y XAY XaY Sperms All daughters show dominant phenotype Half of sons show recessive phenotype
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Examples of X-linked genes in humans
Hemophilia Color-blindness Duchenne’s Muscular Dystrophy
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What has to happen for a girl to be color blind? (draw the square)
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Pedigrees
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Pedigree Take 2
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Sex-linked Pedigree
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What if the data doesn’t fit these patterns?
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Possibility 1– the Trait is Polygenic
Multiple genes play a role in determining phenotype Skin color Height Eye color Hair color
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Possibility 2– Environmental Effects
Environment plays huge role in gene expression E.g. weight, strength May also directly affect phenotype E.g. hydrangeas
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Possibility 3 - Epistasis
Another gene affects the expression of this gene E.g. mice need to have a “color gene” to express the agouti or black color
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