Name 7 03 Final Exam 2005 Name 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 1 Name 1 24 pts You are studying three autosomal mutations in flies Each of these three mutations 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 have long wings The wn2 mutation is recessive and also causes the phenotype of short wings The ey mutation is dominant and causes the phenotype of small eyes wildtype flies have big eyes You cross true breeding wn1 wn2 short winged females to true breeding ey males to obtain an F1 generation You then cross female F1 flies to true breeding wn1 wn2 big eyed males You analyze the resulting progeny and find that there are flies in the progeny from all four phenotypic classes Short wings Small eyes Long wings Small eyes Short wings Large eyes Long wings Large eyes For parts a c write out complete genotype s and phenotype s of the flies we ask for 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 Genotype P generation mother P generation father b 6pts Write out complete genotype s and phenotype s of F1 flies Phenotype Genotype F1 generation mother of F2 Father to whom you cross the F1 mother 2 Name c 8pts Write out complete genotype s of the different F2 flies Phenotype Genotype Short wings Small eyes Long wings Small eyes Short wings Large eyes Long wings Large eyes d 4pts Remember from class that oddly enough male flies do not undergo recombination during meiosis You cross true breeding wn1 wn2 short winged females to true breeding ey males to obtain an F1 generation You then cross male F1 flies to true breeding wn1 wn2 big eyed females If you analyze 2000 resulting progeny predict the number of the following kinds of flies that you will get Phenotype Number of flies Short wings Small eyes Long wings Small eyes Short wings Large eyes Long wings Large eyes 3 Name 2 26 pts You are studying a new species of primate that is diploid and has four pairs of autosomes You have found a rare autosomal recessive disease that is lethal in old 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 for this disease and decide to use SSR mapping to do so Your first step is to determine which chromosome the locus responsible for the disease is located on You have access to blood samples of all living members of the family and you use these blood samples 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 4 The 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 Individual 1 Individual 2 SSR 12 AB AA AA AB BB AB AA BB AA BB AB AB 13 BC AC BB BB AC AC BB AC BC BB AA BB 14 AC AB BC BC AB AB AB BC BC AB BC AB 17 AB AB AB AB AB BB BB AB BB BB AB BC 4 Name a 4pts Fill in the empty column of the chart which indicates the deceased mother s genotypes at each of the four SSRs Indicate any ambiguous alleles with a questionmark b 4pts If you want to determine the LOD score for this family for the locus responsible for the disease and one SSR which parent s would be relevant Individual One 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 0 1 for this family for the locus responsible 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 5 Name 3 20 pts Hemophilia is an inherited bleeding disorder People with hemophilia lack the ability to clot because of an absence in their blood of clotting factors which are proteins necessary for clotting There are several types of hemophilia one common form is hemophilia A Hemophilia A is an X linked recessive disorder possessed by people who lack any functional clotting factor VIII You want to create a genetically engineered mouse model for hemophilia A Mice have a homolog of the human gene encoding clotting factor VIII the mouse homolog also lies on the X chromosome You are interested to see whether a mouse lacking functional clotting factor VIII will show the same 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 result i ii iii iv v 6 Name 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 even the smallest movement gives them injuries that are lethal How are you going to maintain your genetically engineered strain of mice given that mice with the disease have an S equal to 100 c 4pts Which aspect of the creation of your strain of genetically engineered mice would demonstrate that the gene for clotting factor VIII is haplosufficient i e NOT haploinsufficient Explain your answer in one sentence d 4pts You want to test whether clotting factor VIII which is mutated in people with hemophilia A physically interacts with clotting factor IX which is mutated in people with hemophilia B Which technique that we have discussed would you use to test …
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