Lecture Outline 9/1/05 • Mendelian genetics – Monohybrid and dihybrid crosses – Calculating offspring proportions in the F1 and F2 • Some rules of probability • Goodness of fit tests • Start Pedigree analysis New Exam Dates Wed Sept 28 Wed Oct 26 Tue Nov 22 4:30 PM 4:30 PM (in class) Check the course web site for homework problems (due Sept 12) Gregor Mendel • He proposed two basic laws of genetics: – Law of random segregation • Alleles segregate in meiosis to produce haploid gametes – Law of independent assortment • Different traits are inherited independently – He also figured out particulate inheritance, dominance, genotype vs phenotype and more, although he didn’t use those words • You can see a translation of his original paper at www.mendelweb.org Question: Mice can be black (B-) or brown (bb). What are the expected offspring of the cross B/b x B/b? 1. Write down the probability for each kind of gamete produced by a B/b parent. 2. Combine gametes from Mom and Dad to produce offspring classes 1 First write down the genotypes of the parents Then write down the gametes they can produce Branch Diagrams (fill this in on your own) Fig 2.1Combine gametes to determine progeny genotypes and phenotypes Rules of probability • Product rule – The probability of both of two independent events is the product of the probabilities • Pr(A and B) = Pr(A) x Pr(B) Determining genotypes of F2 black mice • The F2 black mice contain a mixture of genotypes-- how can you tell which are which? • Sum rule: – The probability of either of two independent and mutually exclusive events is the sum of the probabilities • Pr (A or B) = Pr(A) + Pr(B) – Cross to make F3? – Test cross? • -> what do you expect from each? Use product rule for “AND” questions Use sum rule for “OR” questions Independent Assortment • Now consider pairs of characters. • Mendel asserted that different traits assort independently when gametes are produced. (Only works if traits are on different chromosomes or are far enough apart that crossing over occurs each generation.) Question • Mendel crossed pure breeding green-round peas with pure breeding yellow-wrinkled peas. – What types of progeny do you expect in the F1? – What types of progeny do you expect in the F2? 2 Cross F1 to make F2 Cross parents to make F1 First write down the genotypes of the parents 1. Write down the genotypes of the parents Then write down the gametes they can produce 2. Then determine the GAMETES made by each parent Combine all gametes to determine progeny types 3. Finally combine gametes to predict offspring types Fig 2.11 Fig 2.11 Now do the same thing with Branch Diagrams A dihybrid cross gives 9:3:3:1 ratio R/r;Y/y x R/r;Y/y R locus Offspring can be: 1/4 RR Or 1/4 Rr Or 1/4 rR Or 1/4 rr Y locus Offspring can be: Combine probabilities to get the complete offspring genotypes 1/4 YY Or 1/4 Yy Or 1/4 yY Or 1/4 yy 1/4*1/4 = 1/16 RR YY 1/4*1/4 = etc 1/16 RR Yy Fig 2.10 Etc. Solving more complex crosses using branch diagrams • AaBbccDd x aaBbCcdd – > What is the probability of getting the homozygous recessive (aabbccdd)? Chi-square test Example from a test cross: G/g x g/g Phenotype Observed # Expected # Green 30 25 Yellow 20 25 Total 50 50 – > Separate into single traits, then use the product rule to combine independent traits We expect equal numbers of green and yellow peas. – > 1/2 * 1/4 *1/2 * 1/2 = 1/32 Are the observed data consistent with our expectation? We need a measure of “lack of fit” 3 Chi Square goodness of fit test • Use for experiments where you COUNT something and want to test the fit to a prediction. Χ2 =SUM of (observed - expected) 2 (expected) Chi-square test • X2 = Sum ((Obs - Exp)2 / Exp) Phenotype Green Yellow Total Observed # 30 20 50 Expected # 25 25 50 (add up all of the squared deviations from the expected value) X2 = 52 / 25 + -52 / 25 =2.0 Remember, aways use COUNTS, not percentages 2.0 < 3.84 Chi-square test • What does p<0.05 mean? – Less than 5% chance of seeing a deviation at least that large, if the hypothesis is true. • How do you determine the degrees of freedom? – Number of independent classes (n-1) df = nclasses-1 there > 5% probability observing a discrepancy that large Chi-square • Use counts, not percentages • Compare your value to critical values – If your observed value is too large, the fit is worse than expected by chance. For Next Time: • Read the rest of Chapter 2 • Do the first homework assignment (on web) www.uvm.edu/~dstratto/bcor101 • Degrees of freedom • Usually n-1, where n is the number of phenotypic classes 4
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