Mendel and Genetics
Transcription
Mendel and Genetics
Mendel and Genetics Mr. Nagel Meade High School Warm Up Meiosis Review • Consider the following about Meiosis: – How many daughter cells are created? – How many chromosomes are in each daughter? – What words could be used to describe the daughter cells? – What events in Meiosis lead to nearly infinite possibilities in genetic variation? IB Syllabus Statements • 4.1.1 – State that eukaryote chromosomes are made of DNA and proteins. • 4.1.2 – Define gene, allele and genome. • 4.3.1 – Define genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus, homozygous, heterozygous, carrier and test cross. • 4.3.2 – Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a Punnett grid. • 10.1.4 – State Mendel’s law of independent assortment. • 10.1.5 – Explain the relationship between Mendel’s law of independent assortment and meiosis. http://click4biology.info/c4b/4/gene4.1.htm Question? • What is inheritance? Inheritance: Passing on traits by transmitting them from parents to offspring – How does it relate to you personally? – Why does it matter to you and your future family members? Once Upon a Time… • Gregor Mendel (1865) – Austrian Monk – A PAIR of factors control the expression of each inherited trait in an organism • Sutton (1900) – These factors are on chromosomes • Modern Thought – These factors are called GENES and are segments of DNA Give “Peas” A Chance • Why use pea plants? – What physical features could you monitor? Factors Observed by Mendel Mendel’s First Experiment • What are the genotypes for each seed? • Which trait is dominant? • Which trait is recessive? • Is the parental Spherical seed homozygous or heterozygous? Down With the Lingo? • • • • • • • • • • • • • • • Gene Allele Genome Dominant Recessive Homozygous Heterozygous Self-Pollination Cross-Pollination Parental Generation Filial Generation Independent Assortment Segregation Genotype Phenotype Down With the Lingo? • Gene – segment of DNA on a chromosome that controls a particular trait • Allele – equivalent of Mendel’s ‘factor’ - several alternative forms of a gene {one from each parent} • Genome – entire genetic makeup of an organism • Dominant – dominates the other factor of the trait • Recessive – masked in the presence of a dominant factor • Homozygous – when both alleles of a pair are the same • Heterozygous – when both alleles of a pair are NOT the same • Self-Pollination – mating with self (same plant) • Cross-Pollination – mating with a different plant • Parental – original generation • Filial – children (generation of offspring) • Independent Assortment – there is no connection AT ALL between any given inherited trait (color and height, etc.) • Segregation – two factors (alleles) that a parent possess for a trait are separated during egg/sperm formation • Genotype – genetic makeup of an organism • Phenotype – external appearance of an organism Mendel and Meiosis • Discuss with a partner: – What does independent assortment mean in terms of what is observed in Meiosis? • Hint: Linkage is when two traits are known to commonly exist together. – What does segregation mean in terms of what is observed in Meiosis? • Hint: Disjunction is when the chromosomes separate, sending one trait to each sex cell. Punnett Grids • Graphical representation of possible offspring • Each parent occupies one side • Each parental gene occupies one side of a ‘box’ • Based on ideas of Probability – In Meiosis, there is a 50/50 possibility that each trait is passed on. (Think coin flip) Parental Genes Mom 1 Mom 2 Dad 1 Kid 1 Kid 2 Dad 2 Kid 3 Kid 4 Punnett Grids Punnett Grids • What are the two parental genotypes? • What are the two parental phenotypes? • What are the offspring’s genotypes? Ratio? • What are the offspring’s phenotypes? Ratio? Homozygous Dominant (YY) x Homozygous Recessive (yy) • What are the two parental genotypes? • What are the two parental phenotypes? • What are the offspring’s genotypes? Ratio? • What are the offspring’s phenotypes? Ratio? Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 Homozygous Dominant (YY) x Heterozygous (Yy) • What are the two parental genotypes? • What are the two parental phenotypes? • What are the offspring’s genotypes? Ratio? • What are the offspring’s phenotypes? Ratio? Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 Heterozygous (Yy) x Heterozygous (Yy) • What are the two parental genotypes? • What are the two parental phenotypes? • What are the offspring’s genotypes? Ratio? • What are the offspring’s phenotypes? Ratio? Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 Warm Up Intro to Genetics Review • How are Mendel’s laws associated with our understanding of Meiosis? – Independent Assortment? – Segregation? • Consider the trait for silliness. S (silliness) is dominant over s (serious). Create a Punnett Grid of a mating of two parents that are silly but produce a serious child. IB Syllabus Statements • 4.3.2 – • 10.2.1 – • State that a human female can be homozygous or heterozygous with respect to sex-linked genes. 4.3.10 – • Describe the inheritance of colour blindness and hemophilia as examples of sex linkage. 4.3.9 – • Define sex linkage. 4.3.8 – • State that some genes are present on the X chromosome and absent from the shorter Y chromosome in humans. 4.3.7 – • Explain how the sex chromosomes control gender by referring to the inheritance of X and Y chromosomes in humans. 4.3.6 – • Describe ABO blood groups as an example of codominance and multiple alleles. 4.3.5 – • State that some genes have more than two alleles (multiple alleles). 4.3.4 – • Calculate and predict the genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes. 4.3.3 – • Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a Punnett grid. Explain that female carriers are heterozygous for X-linked recessive alleles. 4.3.11 – Predict the genotypic and phenotypic ratios of offspring of monohybrid crosses involving any of the above patterns of inheritance. http://click4biology.info/c4b/4/gene4.3.htm Dihybrid Cross Parental Genes Dad 1 Dad 2 Dad 3 Dad 4 Mom 1 Kid 1 Kid 2 Kid 3 Kid 4 Mom 2 Kid 5 Kid 6 Kid 7 Kid 8 Mom 3 Kid 9 Kid 10 Kid 11 Kid 12 Mom 4 Kid 13 Kid 14 Kid 15 Kid 16 Homozygous Dominant (TTYY) x Homozygous Recessive (ttyy) Parental Genes Dad 1 Dad 2 Dad 3 Dad 4 Mom 1 Kid 1 Kid 2 Kid 3 Kid 4 Mom 2 Kid 5 Kid 6 Kid 7 Kid 8 Mom 3 Kid 9 Kid 10 Kid 11 Kid 12 Mom 4 Kid 13 Kid 14 Kid 15 Kid 16 Heterozygous (TtYy) x Heterozygous (TtYy) Parental Genes Dad 1 Dad 2 Dad 3 Dad 4 Mom 1 Kid 1 Kid 2 Kid 3 Kid 4 Mom 2 Kid 5 Kid 6 Kid 7 Kid 8 Mom 3 Kid 9 Kid 10 Kid 11 Kid 12 Mom 4 Kid 13 Kid 14 Kid 15 Kid 16 Codominant I • Imagine a cat that is black, and another that is white. – What if all the offspring were gray? – What if half the offspring were gray and half were white? Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 Codominant II • Consider two parents, one with type A blood and one with type B. – How could a child of this mating have type O blood? Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 Sex-Linked I • Imagine a colorblind mom mating with a noncolorblind dad. – What predictions could you make about the offspring? – What do you notice about the boys? Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 Sex-Linked II • Imagine a hemophilic dad mating with a nonhemophilic mom. – What predictions could you make about the offspring? Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 Testcross • What if we know the offspring phenotypes and/or genotypes, but don’t know one of the parents? • Breed with a homozygous recessive! Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 • Fun With Traits Pick a few traits from the list below: – Dominant • • • • • • • • Widow’s peak Dimples Bent little finger Mid-digital hair Dwarfism L-over-R Thumb folding Detached Earlobes Tongue Rolling – Recessive • Hitch-hiker’s Thumb (90’) • Chin cleft – Sex-Linked • Hemophilia • Red-green Colorblindness • Male Pattern Baldness – Co-Dominant • Blood type • Flower Color (Red/White) • Map out a Punnett Square based on the trait you selected, where mom and dad are both heterozygous for the condition or trait. Where are Genes Located? • http://www.ncbi.nl m.nih.gov/books/N BK22266/ Assessment • Imagine a parent that is blue and another that is red. – Construct a Punnett Square for each that demonstrates this mating if: • ALL the offspring are Blue. • ALL the offspring are Purple. • HALF of the offspring are Red. (2) Parental Genes Dad 1 Dad 2 Mom 1 Kid 1 Kid 2 Mom 2 Kid 3 Kid 4 Warm Up Genetics Review • Consider a parent with type A blood. – What type of parental mating would determine the parent’s genotype? What is called? – The parent is found to have the genotype Ao. List the possible offspring with a parent with genotype AB. – What was the probability of having a child with the type blood: • AB •A Gizmo • Observe outcomes predicted in Punnett Grids for: – Single Trait – Two traits – Aliens – Codominance Warm Up Genetics Review • Consider the following situation. – Two parents, one possessing Nagel’s Disease and one perfectly healthy, mate. Describe the mode of inheritance and construct a Punnett Grid if: • None of the children are visibly affected. (2 possible) • Half of the children are visibly affected. • Only the male offspring have the disorder. IB Syllabus Statements • 4.3.12 – Deduce the genotypes and phenotypes of individuals in pedigree charts. http://click4biology.info/c4b/4/gene4.3.htm Pedigrees http://www.sciencecases.org/hemo/hemo.asp Pedigrees • Let’s take a look at Queen Victoria’s son Leopold’s family. His daughter, Alice of Athlone, had one hemophilic son (Rupert) and two other children— a boy and a girl—whose status is unknown. – What is the probability that her other son was hemophilic? – What is the probability that her daughter was a carrier? Hemophilic? – What is the probability that both children were normal? Pedigrees • Now for the Spanish connection: Victoria’s youngest child, Beatrice, gave birth to one daughter, one normal son, and two hemophilic sons. – Looking at the pedigree of the royal family, identify which of Beatrice’s children received the hemophilic gene; why can you make this conclusion? • Notice that Beatrice’s daughter, Eugenie, married King Alfonso XIII of Spain and had six children, one of whom was the father of Juan Carlos, the current King of Spain. – Would you predict that Juan Carlos was normal, a carrier, or a hemophilic? – What is the probability that her unnamed son was hemophilic? Pedigrees • Lastly, the royal line of Russia. – What are the probabilities that all four of the girls were carriers of the allele hemophilia? – Supposing Alexis had lived and married a normal woman, what are the chances that his daughter would be a hemophiliac? – What are the chances his daughters would be carriers? – What are the chances that his sons would be hemophiliacs? Pedigree Practice • Use the worksheets in small groups to determine the genotypes and phenotypes of the given subjects. Warm Up Chi Square Test for Dihybrid Cross • • • Chi Square Problem: An ear of corn has a total of 381 grains, including 216 Purple & Smooth, 79 Purple & Shrunken, 65 Yellow & Smooth, and 21 Yellow & Shrunken. Hypothesis: This ear of corn was produced by a dihybrid cross (PpSs x PpSs) involving two pairs of heterozygous genes resulting in a theoretical (expected) ratio of 9:3:3:1. Objective: Test the hypothesis using chi square and probability values. In order to test your hypothesis you must fill in the columns in the following Table. http://waynesword.palomar.edu/lmexer4.htm Warm Up Chi Square Test for Dihybrid Cross • • • • Chi Square Problem: An ear of corn has a total of 381 grains, including 216 Purple & Smooth, 79 Purple & Shrunken, 65 Yellow & Smooth, and 21 Yellow & Shrunken. Hypothesis: This ear of corn was produced by a dihybrid cross (PpSs x PpSs) involving two pairs of heterozygous genes resulting in a theoretical (expected) ratio of 9:3:3:1. Objective: Test the hypothesis using chi square and probability values. In order to test your hypothesis you must compare your value to that on the chart. Degrees of Freedom = ??? http://waynesword.palomar.edu/lmexer4.htm Probability Lab • Using pennies, we will model births to determine population statistics… • Then we will use math to make similar predictions… • Lastly, we will use pedigrees to illustrate why inbreeding allows recessive traits to become expressed frequently! Warm Up Inheritance • Given the parents AaBbCcDd and aabbccdd: – What are the chances of a child aabbCcDd? – What are the chances of a child AaBbCcDd? – What are the chances of a child AABBCCDD? – What are the chances of a child aaBbccDd? IB Syllabus Statements • • 10.3.1 – Define polygenic inheritance. 10.3.2 – Explain that polygenic inheritance can contribute to continuous variation using two examples, one of which must be human skin colour. http://click4biology.info/c4b/10/gene10.3.htm Polygenes • Polygenes have an additive effect… the more dominants you have, the more intense the feature: – Fingerprint Ridge Count – Eye Color – Skin Color Warm Up Meiosis • What event in Meiosis I accounts for the shuffling of traits amongst non-sister chromatids? • Given a parent AaBb, what is the probability that AB will be passed on? – Which of Gregor Mendel’s laws dictates this? – Could this rule ever be broken? IB Syllabus Statements • 10.2.1 – Calculate and predict the genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes. • 10.2.3 – Explain how crossing over between non-sister chromatids of a homologous pair in prophase I can result in an exchange of alleles. • 10.2.4 – Define linkage group. • 10.2.5 – Explain an example of a cross between two linked genes. • 10.2.6 – Identify which of the offspring are recombinants in a dihybrid cross involving linked genes. http://click4biology.info/c4b/10/gene10.2.htm Heterozygous (TtYy) x Heterozygous (TtYy) Parental Genes Dad 1 Dad 2 Dad 3 Dad 4 Mom 1 Kid 1 Kid 2 Kid 3 Kid 4 Mom 2 Kid 5 Kid 6 Kid 7 Kid 8 Mom 3 Kid 9 Kid 10 Kid 11 Kid 12 Mom 4 Kid 13 Kid 14 Kid 15 Kid 16 What would you do? • William Bateson & R.C. Punnett (early 1900s) • Sweet pea plants – PpLl x PpLl • • • • P = purple eyes p = red eyes L = long pollen l = round pollen Phenotype Expected (9:3:3:1) Observed Purple, Long 3911 4831 Purple, Round 1303 390 Red, Long 1303 393 Red, Round 435 1338 TOTAL 6952 6952 Why does this happen? • Genes located on the same chromosome exhibit this behavior if they are close to each other, but… • Genes on far ends of the same chromosome act ‘nearly independent’… thus Gregor Mendel got really lucky! A B A a B b a b Trait Phenotype Alleles Chromosome Seed form round-wrinkled R-r 7 Seed color yellow-green I-i 1 Pod color green-yellow Gp-gp 5 Pod texture smooth-wrinkled V-v 4 Flower color purple-white A-a 1 Flower location axial-terminal Fa-fa 4 Plant height tall-dwarf Le-le 4 http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/L/Linkage.html Read about it! • http://biology.clc.uc.edu/courses/bio105/s ex-link.htm So what? • Genes can be mapped based on their distance apart – Closer = less likely crossing over occurs • A map unit is 1 cM, or centimorgan, and represents a 1% cross over rate – Shout out to Morgan’s work with flies and discovering crossing over Gene Maps In The Modern Age • http://www.ncbi.nlm.nih.gov/books/NBK22 266/ Recombinants • Recombinants – Products of meiosis with allelic combinations different from those of the haploid cells that formed the meiotic diploid. – RESULT OF CROSSING OVER! • Re-combined DNA – These appear as the lower than expected values in the observed matings