Week 10.2_Mendelian Genetics 02 [Autosaved]

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Introduction to Mendelian Genetics II Week 10 – Wednesday October 25, 2023
Week 10 Learning Objectives Use Punnett Squares and probability to make predictions. Apply your knowledge to reading and interpreting pedigrees.
Review Mendel’s Crosses Mendel’s Crosses P generation crossed true breeding purple flowered plants with true breeding white flowered plants Resulted in all purple plants Monohybrid Cross Crossing two heterozygous plants together Pp X Pp Results in a 3:1 ratio of purple to white flowered plants. White True- breeding Plant, pp Purple True- breeding Plant, PP X Self cross of F1 generation
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Punnett Squares A tool to easily predict offspring phenotypes For a monohybrid cross 3:1 phenotypic ratio 3 purple: 1 white 1:2:1 genotypic ratio 1 PP : 2 Pp : 1 pp P P P P Pp Pp p p pp
Filling in a Punnett Square Highlights the Law of Segregation The law states that a pair of homologous chromosomes (and their alleles) split up into separate gametes randomly. P P PP Pp Pp P P p p pp
Mendel’s Results Were the Same Regardless of Traits Mendel performed monohybrid crosses for all seven of the traits he studied. Each time, he saw only the dominant allele in the F1 generation. Each time he saw a 3:1 ratio in the F2 offspring. Table 12.1
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Mendel’s Three Principles 1. Dominance 2. Segregation 3. Independent assortment The foundation of “Classical or Mendelian Genetics”
Dominance Dominance: Mendel’s experiment with pea plants suggested that there are two units (alleles) for every gene. Both alleles are inherited (no blending). But in the presence of the dominant allele, the other unit, the recessive allele, is masked and not expressed. For example, purple flower trait is said to be dominant (what Mendel called the “ expressed unit factor ”). Absent trait, white flowers in F1 generation is recessive (what Mendel called the “latent unit factor” ) and its phenotype is masked . 1
Segregation During meiosis when gametes, i.e., eggs and sperms, are produced, the pair of alleles are on separate homologous chromosomes: The paired alleles are segregated equally. One allele goes to half the gametes and the other allele goes into the other half of the gametes. This makes it so that there is an equal likelihood of inheriting either allele. This is called the law of segregation because the alleles will separate during gamete formation. 2
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Segregation Mendel’s analogy: Unit factors were like rosary beads. One bead represented a unit factor. Alternate alleles were like pairs of beads on a rosary. Keep in mine, Mendel knew nothing about chromosomes and genes. 2 Alternate alleles were like pairs of rosary beads!
Segregation If you are a plant or animal breeder, you want to be able to predict the results of crosses: Such breeding experiments are called test crosses . Test crosses used a Punnett Square diagram where the segregated alleles are placed in horizontal rows and columns. Allows prediction of probability of genetic makeup and phenotype of F1 generation. Results displayed as ratio or percentage of F1 generation. 2
What would be the genotype of the purple parent if the offspring were half white flowers and half purple flowers? A. PP B. Pp C. pp D. Not enough info
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Genotype of An Unknown Purple Plant Through A Test Cross Purple flowered plants on right can be PP (homozygous dominant) or Pp, heterozygous. Only two possibilities. A test cross is when you cross an unknown genotype to a homozygous recessive Test cross on right assumes unknown plant is PP. P P P? X P Pp Pp Pp p Pp p P
Genotype of An Unknown Purple Plant Through A Test Cross This time, test cross on right assumes unknown plant to be Pp A test cross is when you cross an unknown genotype to a homozygous recessive P? X P Pp Pp pp p pp p p p
Independent Assortment Genetic crosses can also be done with two separate characters . This is called a dihybrid cross . It is assumed that the two characters will be on separate pairs of homologous chromosomes. In the dihybrid cross, we will look at male and female black labs that can hear are crossed: Both dogs are also heterozygous for coat color and hearing and their genotype are both BbDd, respectively. B = Black coat b = Chocolate coat D = Hearing d = deafness The alleles for coat color and hearing/deafness will sort out independently since they are on separate chromosomes. 3
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Independent Assortment This is how the alleles of the two characters will sort out: 3
Independent Assortment Dihybrid cross of Labrador Retrievers will look like this: Genotype: BbDd Phenotype: black coat, hearing 3
Independent Assortment Results of Labrador Retrievers: 3
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Misconceptions “ Dominant alleles are more common” NO, dominant alleles expresses the same phenotype in a heterozygote as they do in a homozygote. “ Recessive alleles always cause diseases” Some genetic disorders are caused by recessive alleles Others are caused by dominant alleles
Dominant and Recessive Human Genetic Traits Table 12.4
Pedigree analysis The use of pedigree analysis originated in genealogical practices, i.e., family trees which were then applied to genetics. Useful in tracking certain diseases between generations Used extensively in animal breeding Cattle meat production Cow milk production Horse racing Dog breeds
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Recessive disorders Sometimes neither parent has a disorder yet produces offspring with the disorder What Punnett Square would explain this? AA – healthy Aa – healthy aa - disorder A A A A A Aa Healthy heterozygote is called a ‘carrier’ a a aa a
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Pedigrees, How to Read Them Unaffected female Affected female Unaffected male Affected male II 1 2 3 4 I III 1 2 1 2 3
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Recessive pedigree example How do we know this is a recessive pedigree? With a recessive trait: Two healthy parents can produce affected offspring (Not all generations have an affected individual). II 1 2 3 4 I III 1 2 1 2 3
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Dominant disorders If an offspring shows the disorder, one parent must also have the disorder AA – disorder Aa – disorder aa - healthy One affected parent = 50% of offspring affected Aa A aa Aa a a aa a
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Dominant disorders When both parents are healthy. AA – disorder Aa – disorder aa - healthy a a a a aa aa aa aa
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Dominant pedigree Affected offspring have an affected parent Each generation has an affected individual II 1 2 3 4 I III 1 2 1 2 3
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Widow’s peak is a dominant trait that appears as a v shaped airline. If one of your parents has this phenotype, this means that: A. You and all your siblings will have this trait. B. Probability that 25% of you and your siblings will have this trait. C. Probability that 50% of you and your siblings will have this trait. D. Probability that 10% of you and your siblings will have this trait.
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The Eugenics Movement of the Early 1900’s Started in the United States. Sought to ascribe the concepts of genetics to societal issues, to improve the genetic ”quality” of the human population. Sought to remove “undesirable” traits from population, leaving “desirable” traits. Criminality vs Law Abiding How ”fit” mothers are in raising children. Intelligence Led to forced sterilization (disproportionately targeted black, Latinos, and indigenous women). These ideas and practices eventually spread to other countries including those in Europe (e.g., Germany).
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Summary Punnett Squares demonstrate Mendel’s Law of Segregation A test cross helps determine the genotype of a dominant phenotype Misconceptions exist about dominant and recessive alleles – review the slides to master the material Dominant and recessive genetic disorders show different patterns on a pedigree
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