General Genetics Study Guide WITH INFORMATION Exam 1 BIOL 3832
General Genetics Study Guide WITH INFORMATION Exam 1 BIOL 3832 BIOL 3832
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General Genetics Exam 1 Study Guide Chapter 2 Define: Allele ‘Law of Independent Assortment’ Chromatid Autosome Mutant DNA molecule Phenotype Dyad Genotype Homologous Chromosome Dimorphism Polymorphism Heterozygote Reciprocal Cross Zygote Self Chromosome Sex Chromosome Gene Sister Chromatid Homozygote Tetrad DNA molecule X Linked Traits The 7 phenotypic pairs studied by Mendel: 1. 2. 3. 4. 5. 6. 7. Traits of Mendel’s characters 1. 2. Plants can either be _______________________________________ or _________________. Mendel’s crosses resulted in _______________________________________. Principle of Equal Segregation 1. 5. 2. 6. 3. 7. 4. 8. Describe the difference between dominant and recessive. Describe a monohybrid cross. And explain what monohybrid crosses reveal? Generations - - - All crosses that result in a ______________ or a _____________ ratio tell us a single gene is being inherited. DNA molecules replicate to form identical _____________________________________. Describe the phases of of Mitosis and Meiosis During ___________________________, chromosome exchange (recombination) occurs. Count chromosome number and DNA molecules/chromatids during each phase of: Meiosis Mitosis Sex chromosomes do not contain ____________________________ genetic information. Genes on ________ chromosome produce _______________ inheritance. Basic rules for pedigree analysis: 1. 2. Waardenburg Syndrome - - - - Autosomal Recessive - - - X-Linked Recessive - - - - - Probability - - Product Rule vs. Sum Rule ‘Product Rule’ Example: ‘Sum Rule’ Example: Independent events: Mutually exclusive events: QUESTIONS-- From Lecture Powerpoints Here, the R allele is dominant to the r allele (R/r and R/R plants produce round seeds; r/r plants produce wrinkled seed). You have been given a plant that produces round seeds. So the genotype of the plant could be R/R or R/r (often written as R-). What cross could you perform to determine the genotype of your round seed plant? What phenotypic ratio would you expect from this cross if your round plant is R/R? How about R/r? A true-breeding tall plant is crossed with a true-breeding dwarf plant. The F1 produced all tall plants. Selfing the F1 produced an F2 with 94 tall plants and 29 dwarf plants. What are the genotypes of the P, F1, and F2 generations? Clearly define your alleles. Mendel worked with genes in which there were only 2 alleles available to him. However, a gene can have multiple alleles. Suppose a third allele for the Y gene was identified that caused pea color to be orange. How many alleles of the Y could a normal pea plant have? Explain your answer. If the goal of meiosis is to halve the genetic material in the gametes, what can you conclude about the genetic content of the 2n cells that initiate meiosis? The cells in the resulting 2n zygote? Suppose you are working with an organism that has 2 nonhomologous chromosomes such that 2n=4. The genotype of one individual is AaBb and the A and B genes are on different chromosomes. Draw the chromosomes of this individual during G1 and during Mitotic metaphase. Label the A and B genes. The yellow gene in Drosophila is also located on the X-chromosome. Wild type (y+) flies have a grey body; yellow mutant flies (y) have a yellow body. If you crossed a yellow bodied MALE fly to a grey bodied FEMALE fly, what phenotypic ratio would you expect in the F1? If you mated males and females from the F1, what ratio would you expect in the F2? If you crossed a yellow bodied MALE fly to a grey bodied FEMALE fly, what phenotypic ratio would you expect in the F1? If you mated males and females from the F1, what ratio would you expect in the F2? The ebony gene in Drosophila also regulates body color. Wild type (e+) flies have a grey body; ebony mutant flies (e) have an ebony body. If you have both ebony bodied flies and grey bodied flies, what crosses could you perform to know if ebony is on the X-chromosome or an autosome (non-sex chromosome)? If the probability of being blood-type A is 1/8 and the probability of being blood-type O is ½. What is the probability of being either blood-type A or blood-type O? Product or Sum Rule? What is the probability? Consider the cross: A/a x A/a What is the probability that the offspring will show the dominant phenotype? The recessive phenotype? Chapter 3 Define: Dihybrid Parental Monohybrid Recombinant Chi-Square Test Significant Difference Chiasmata Independent Assortment Maternal Inheritance Product Rule Mendel found that dihybrid breedings produced a _________________________ ratio Mendel’s ‘Law of Independent Assortment’ - - The Chi-Squared Test - - - Q: Is the deviation between the expected value and the observed value due to chance or some other factor that influences the result? The chi-square test is used to determine the ________________of the outcomes of _____________ experiments The chi square test is based on the hypothesis: ______________________________________________________________________________ ___________________ When the probability calculated is ___________, we assume that chance alone produced the difference When the probability calculated is __________, we assume that some factor other than chance produced the difference 1. If null hypothesis is ____________ then chance alone is responsible for the deviation 2. If null hypothesis is ____________ then something other than chance is responsible for the deviation To use this test, you must: 1. Determine the ______________ and ______________ results for each phenotypic class Chi-square test must be ________________________________________ not to proportions or percentages 2. Determine the chi-square value __________ (symbol) for your results 2 The chi-square (χ ) value is calculated by using the following formula: (observed - expected) 2 Expected 3.Determine the Degrees of Freedom for your experiment The ___________________ represent the ___________ of ways in which the_________ classes are free to vary *(A common way to think of degrees of freedom is as the _________________________of information available to estimate _______________________of information) 4. Determine the probability associated with the chi-square value This is the _____________ that the deviation between the ___________and the ____________ results could be due to __________ 5. Make your final conclusion If the _________is greater than________, then the variation is due to chance alone If the ________ is less than ________, then the variation is ________due to chance alone Linked Genes - - - Genetic maps rely on two principles 1. 2. Deviation away from Independent Assortment Q: Do the genes for flower color and pollen shape assort independently? Linked alleles tend to be ________________________________ - - The ______________ you observe will depend on the ______________ of recombination between the genes For linked genes, recombinant frequencies are __________ than ___________ percent Recombination occurs ___________ frequently between ___________ genes than no recombination, so: Parental: _________frequency in gametes/zygote Recombinant: _____________ frequency in gametes/zygote To observe recombination between _______ genes in a ____________, a testcross is made with a ___________ (homozygous recessive) individual Longer regions have more ________________ and thus ______________recombinant frequencies Map _____________ are given in units that equal _________ % recombination 1 map unit (m.u.) = 1 _____________ (cM) = 1% _________________ Notation for Crosses with Linkage - - - Strategy #1 for working with Linkage 1. Identify Parental and Recombinant______________, then determine Parental chromosome configuration *Solve the configuration and draw a map 2. Determine the ____________ recombination 3. Construct a __________ map QUESTIONS-- From Lecture Powerpoints John and Martha have two children. The first child has an autosomal recessive disease. The second child does not have the disease. Neither John nor Martha have the disease. What is the probability that the second child is heterozygous (a ‘carrier’ of the disease)? Suppose you cross R/R y/y X r/r Y/Y and self the F1 What proportion of the F2 will be: R/R Y/y? R/r y/y? r/r Y/Y? Suppose you have a ‘pentahybrid’ plant that you want to self to generate a plant that is recessive for all 5 traits. What proportion of the offspring will be homozygous recessive? The offspring of a genetic cross will tell you if the parents are monohybrids (single gene) or dihybrids (two genes). A tomato breeder crosses two plants that have pear-shaped red fruit and produces the following offspring: 36 pear red 12 round red What genotype would you predict for the parents and offspring? Choose and define your gene symbols. A tomato breeder crosses one plant with pear-shaped red fruit and one plant with round- shaped red fruit and produces the following offspring: 36 pear red 36 round red What genotype would you predict for the parents and offspring? Choose and define your gene symbols. A tomato breeder crosses two other plants that have pear-shaped red fruit and produces the following offspring: 908 pear red 306 round red 294 pear yellow 111 round yellow What genotype would you predict for the parents and offspring? Choose and define your gene symbols. In tomatoes, stem color can be purple or green. Crosses were performed with the following results: parental phenotype offspring phenotypes 1. purple x green 422 purple, 417 green 2. purple x purple 426 purple, 135 green 3. purple x green 953 purple, 0 green 4. purple x green 404 purple, 387 green What are the genotypes of each parent? Clearly describe the gene(s), the allele(s), and their respective phenotypes A tomato breeder crosses two other plants that have pear red fruit and produces the following offspring: 90 pear red (P/- R/-) 30 round red (p/p R/-) 29 pear yellow (P/- r/r) 11 round yellow (p/p r/r) What genotype would you predict for the parents and offspring? Suppose you are working with unlinked genes and you have a dihybrid: A/a B/b Lets consider making a gamete that has allele A; what proportion of gametes will also have the B allele? The b allele? Chapter 4 Define: Cis Configuration Maternally Inherited Trans Configuration Genetic Map + Unit Gel Electrophoresis Map Units Crossing Over Interference Locus Recombination Map Mitochondrial Inheritance Mutagenesis Screen Linked Genes Recombination Frequency In crosses for linked genes, the _________________________________ on the __________________ chromosomes are critical in determining the outcome of the cross Strategy #2 for working with Linkage 1. Determine the ___________ chromosome configuration 2. Determine the parental and recombinant ________________________________ . 3. Assign ______________________ to each class of progeny Genetic distances measured with recombination rates are ______________. By doing a series of crosses between pairs of genes (_________________), you can construct a genetic map showing the __________________________ of a number of genes Genes that show ________________ recombination frequency are ____________ and likely reside on separate chromosomes A ___________ for 2 genes very far apart on the same chromosome tends to _______________ the physical distance as the cross does not reveal _____________________. Extra chromosomal inheritance: ___________________ inheritance that is usually through the ________________. Chapter 6 Define: Codominance Recessive Epistasis Dominance Epistasis Incomplete Dominance Dominant Epistasis Multiple Alleles Penetrance Complementation Analysis Expressivity Lethal Allele Double Mutants Suppressor Null Mutation X inactivation is the __________________ used by mammalian _________to ___________ gene dose between the sexes The X inactivation paradox: if every _____________ cell expresses only one X-linked allele, then why don’t __________________ females show X-linked_________________? Incomplete dominance can occur when __________ gene product produces a new _____________ in the _____________. Deviations away from ___________________________________ are due to the types of proteins the _______________ are encoding Codominance More than two ______________may be present in a group of individuals, although each individual ____________organism still has only ________ alleles at that locus. Mendel’s principle of _______________ applies to crosses with multiple alleles Example: Three alleles determine feather pattern but each ___________can only have _______ alleles. *Remember, they are __________ organisms* Complementation Analysis 1. Complementation analysis addresses the question: Are mutations that yield a similar phenotype present at the same locus (________) or at different gene loci? Case 1: If a cross between two ____________ wingless flies yields flies with wings, the normal products of two genes are allowing for wing development, so the __________involved must be located at two __________ gene loci. Case 2: If a cross between two ____________ wingless flies yields wingless flies, products allowing for wing development are not present, so the mutations involved must be__________. 2. Requires _____________ that are ________________ and show a similar phenotype i.e. P1: Homozygous for a mutation at one locus & P2: Homozygous for a mutation at another locus 3. Complementation tests only work if the ______________results from mutations that are ________________. This will not work if the mutation displays ________________. Expressivity affects _____________ ratios. Reasons for Penetrance: 1. 2. 3. QUESTIONS-- From Lecture Powerpoints Wild type minks have a black coat. Two pure breeding lines have platinum (blue grey) and aleutian (steel grey) coats. The following crosses were performed: Cross (P) F1 F2 Wild type X platinum wild 18 wild, 5 platinum Wild type X aleutianwild 27 wild, 10 aleutian Platinum X aleutian wild 133 wild 41 platinum 46 aleutian 17 sapphire Devise a genetic explanation for these results. Give genotypes for P, F1, and F2 generations. Clearly label your alleles. A pure breeding strain of squash that produced disk-shaped fruit was crossed with a pure breeding strain having long fruits. The F1 had disk fruit, but the F2 showed a new phenotype, sphere fruits. The crosses are outlined below: Cross (P) F1 F2 disk X long disk 32 long 178 sphere 270 disk Devise a genetic explanation for these results. Give genotypes for P, F1, and F2 generations. Clearly label your alleles. Two alleles of a single gene contribute to coat color in cats. X X individuals are black, o o + o X X individuals are orange, and X X individuals are Calico (or tortoiseshell). If a black female cat mates with an orange male, how many male kittens will be Calico? If an orange female cat has Calico kittens, what must the genotype of the father have been? A pure-breeding red petal plant is crossed with a pure-breeding white petal plant and produces all pink petal plants in the F . 1he F is 1elfed and produces: ¼ Red plants ½ Pink plants ¼ White plants Explain these results genetically. How do we know whether different mutations that affect a characteristic occur at the same locus (are allelic) or at different loci (are not allelic)? Use the complementation test to answer the question A blue eyed Mary usually has blue petals. A blue eyed Mary with blue petals is selfed and surprisingly produced the following offspring: - 92 blue petal plants - 32 magenta petal plants - 41 white petal plants Explain these results genetically. Assign genotypes to the parent and each phenotypic class
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