Name: ______________________________17.03 Final Exam -- 2005Name: ______________________________The exam starts at 9 am and ends at 12 pm.There are 18 pages including this cover page.Please write your name on each page.Only writing on the front of every page will be graded.Question 1 24 pts________Question 2 26 pts________Question 3 20 pts________Question 4 24 pts________Question 5 24 pts________Question 6 22 pts________Question 7 34 pts________Question 8 26 pts________TOTAL out of 200_______Name: ______________________________21. (24 pts) You are studying three autosomal mutations in flies. Each of these threemutations lies in a different gene. All three genes lie on the same autosome. The wn1–mutation is recessive and causes the phenotype of short wings (wild-type flies havelong wings). The wn2– mutation is recessive and also causes the phenotype of shortwings. The ey– mutation is dominant and causes the phenotype of small eyes (wild-type flies have big eyes). You cross true-breeding wn1– wn2– short-winged femalesto true-breeding ey– males to obtain an F1 generation. You then cross female F1 fliesto true-breeding wn1– wn2– big-eyed males. You analyze the resulting progeny, andfind that there are flies in the progeny from all four phenotypic classes: Short wings Small eyesLong wings Small eyesShort wings Large eyesLong wings Large eyesFor parts (a) – (c), write out complete genotype(s) and phenotype(s) of the flies we askfor. By complete genotype, we mean the genotype at all loci discussed in the problem.By complete phenotype, we mean the phenotype at all traits discussed in the problem.If there are multiple answers, write ALL POSSIBLE answers.Use “+” to indicate wild-type alleles.(a, 6pts) Write out complete genotype(s) and phenotype(s) of both parents.Phenotype GenotypeP generation motherP generation father(b, 6pts) Write out complete genotype(s) and phenotype(s) of F1 flies.Phenotype GenotypeF1 generation(mother of F2)Father to whom youcross the F1 motherName: ______________________________3(c, 8pts) Write out complete genotype(s) of the different F2 flies.Phenotype GenotypeShort wings Small eyesLong wings Small eyesShort wings Large eyesLong wings Large eyes(d, 4pts) Remember from class that, oddly enough, male flies do not undergorecombination during meiosis. You cross true-breeding wn1– wn2– short-wingedfemales to true-breeding ey– males to obtain an F1 generation. You then cross maleF1 flies to true-breeding wn1– wn2– big-eyed females. If you analyze 2000 resultingprogeny, predict the number of the following kinds of flies that you will get:Phenotype Number of fliesShort wings Small eyesLong wings Small eyesShort wings Large eyesLong wings Large eyesName: ______________________________42. (26 pts) You are studying a new species of primate that is diploid, and has fourpairs of autosomes. You have found a rare autosomal recessive disease that is lethal inold age, and is prevalent in a primate family living in the wild. The mother (Individual 2)has already died from this disease. You want to find the genetic locus responsible forthis disease, and decide to use SSR mapping to do so. Your first step is to determinewhich chromosome the locus responsible for the disease is located on. You haveaccess to blood samples of all living members of the family, and you use these bloodsamples to genotype each living member of the family at four SSRs: SSR12, on chromosome 1 SSR13, on chromosome 2 SSR14, on chromosome 3 SSR17, on chromosome 4The pedigree of the primate family, and the SSRs possessed by each family member,are shown in the chart below. Assume complete penetrance and no new mutations.ABAAAAABBBABAABBAABBABABBCACBBBBACACBBACBCBBAABBACABBCBCABABABBCBCABBCABABABABABABBBBBABBBBBABBCIndividual 2Individual 1SSR12131417Name: ______________________________5(a, 4pts) Fill in the empty column of the chart, which indicates the deceased mother’sgenotypes at each of the four SSRs. Indicate any ambiguous alleles with a question-mark (?).(b, 4pts) If you want to determine the LOD score for this family for the locusresponsible for the disease and one SSR, which parent(s) would be relevant (IndividualOne, Individual Two, or both)?(c, 4pts) Do you know the phase of the parent(s) you listed in part (b)?For parts (d) and (e), calculate the LOD score at θ = 0.1 for this family for the locusresponsible for the disease and each of the following SSRs. For each LOD score,clearly write the expression you used to calculate the LOD score.(d, 7pts) the locus responsible for the disease and SSR12.(e, 7pts) the locus responsible for the disease and SSR13.Name: ______________________________63. (20 pts) Hemophilia is an inherited bleeding disorder. People with hemophilia lackthe ability to clot because of an absence in their blood of clotting factors, which areproteins necessary for clotting. There are several types of hemophilia; one commonform is hemophilia A. Hemophilia A is an X-linked recessive disorder possessed bypeople who lack any functional clotting factor VIII. You want to create a geneticallyengineered mouse model for hemophilia A. Mice have a homolog of the human geneencoding clotting factor VIII; the mouse homolog also lies on the X chromosome. Youare interested to see whether a mouse lacking functional clotting factor VIII will show thesame phenotype as a human lacking functional clotting factor VIII.(a, 8pts) You want to create a genetically engineered mouse model for hemophilia A.For the mouse you make, please state: i) whether you are using pronuclear injection or gene targeting ii) what DNA you would introduce into the mouse cells (also draw the DNA) iii) what is the genotype of the fertilized egg or the ES cells you would start with iv) which additional breeding steps you would do to make the mouse you wanted v) two possible phenotypic results you could get from the newly made mice, and the corresponding conclusion you would make for each resulti)ii)iii)iv)v)Name: ______________________________7(b, 4pts) You find that you are successful in creating a mouse model of hemophilia A.However, you are unable to keep any of the mice with hemophilia A alive, because eventhe smallest movement gives them injuries that are lethal. How are you going tomaintain your genetically engineered strain of mice, given that
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