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- In Figure 6-2, explain how the mutant polypeptide actsas a spoiler and what its net effect on phenotype is.Consider two maize plants:a. Genotype C/c m ; Ac/Ac+, where cm is an unstable allele caused by a Ds insertionb. Genotype C/c m, where cm is an unstable allele caused by Ac insertionWhat phenotypes would be produced and in what proportions when (1) each plant is crossed with a basepair-substitution mutant c/c and (2) the plant in part a is crossed with the plant in part b? Assume that Ac and c are unlinked, that the chromosome-breakage frequency is negligible, and that mutant c /C is Ac+.In rice, male sterility is controlled by maternal cytoplasmic elements. This phenotype renders the male part of rice plants (i.e. the stamen) unable to produce fertile pollen; the female parts, however, remain receptive to pollination by pollen from male fertile rice plants. However, the presence of a nuclear fertility restorer gene F restores fertility to male-sterile lines. Give the result(s) of the cross and explain the phenotype of the offspring.
- Consider two maize plants:a. Genotype C/cm ; Ac/Ac+, where cm is an unstableallele caused by a Ds insertionb. Genotype C/cm, where cm is an unstable allele causedby Ac insertionWhat phenotypes would be produced and in whatproportions when (1) each plant is crossed with a basepair-substitution mutant c/c and (2) the plant in part a iscrossed with the plant in part b? Assume that Ac and care unlinked, that the chromosome-breakage frequencyis negligible, and that mutant c /C is Ac+.Consider a maize plant: Genotype C/cm ; Ac/Ac+ where cm is an unstable colorless allele caused by Ds insertion. What phenotypic ratios would be produced and in what proportions when this plant is crossed with a mutant c/c Ac+/Ac+? Assume that the Ac and c loci are unlinked, that the chromosome-breakage frequency is negligible, and the C allele encodes pigment production.Spherocytosis is an inherited blood disease in which erythrocytes (red blood cells) are spherical instead of biconcave. This condition is inherited in a dominant fashion, with ANK1 (the nonfunctional mutant allele) dominant to ANK1+. In people with spherocytosis, the spleen recognizes the spherical red blood cells as defective and removes them from the bloodstream, leading to anemia; this removal occurs with different efficiency in different people. Some people with spherical erythrocytes suffer severe anemia, some have mild anemia, and others do not have any symptoms of anemia. When 2400 people with the genotype ANK1/ANK1+ were examined, it was found that all of them had spherical erythrocytes, 2250 had anemia of varying severity, and 150 had no anemia symptoms. The ANK1/ANK1 genotype is never observed. Which evidence suggests that spherocytosis is incompletely penetrant?
- A RFLP is discovered that is linked to the gene for Duchenne’s muscular dystrophy (DMD). DMD is an X-linked, recessive trait. The RFLP is 2 map units from the gene for DMD. Consider the following pedigree and Southern blot using a probe that hybridizes to the RFLP. Which band/s is/are associated with DMD? What is the genotype for individuals 3 and 4? (Remember, this is an X linked disease, so use X’s and Y’s to denote). Individual 9 married a man who does NOT have muscular dystrophy, and she is pregnant. DMD is an X-linked trait. What is the probability for their child to have DMD? An amniocentesis is performed and it is determined that 9’s child in utero has only a 10 kb band that hybridizes to the same probe used above. What can you say about the child now?Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?Which members of the pedigree could have been carriers, and which might have been the source of the mutation?
- You are studying a plant with tissue comprising both green and white sectors. You wish to decide whether this phenomenon is due (1) to a chloroplast mutation of the type considered in this chapter or (2) to a dominant nuclear mutation that inhibits chlorophyll production and is present only in certain tissue layers of the plant as a mosaic. Outline the experimental approach that you would use to resolve this problem.Mutations in the HPRT1 gene in humans result in atleast two clinical syndromes. Consult OMIM (www.omim.org) by querying HPRT1; you will only needto look briefly at the top three hits (files #300322,300323, and 308000).a. What is the full name of the HPRT1 enzyme?b. On which chromosome is the HPRT1 gene located?c. Mutations in HPRT1 are associated with two different syndromes. What are these syndromes? Foreach, answer the following questions: (i) What arethe symptoms associated with the syndrome? (ii) Isthe mutant allele that causes the syndrome dominant, recessive, codominant, or incompletely dominant with respect to the normal allele, or do specialconditions apply? (iii) Is the syndrome associatedwith a loss-of-function or a gain-of-function disease allele? (iv) Does the syndrome display allelicheterogeneity? (v) Does the syndrome display locus heterogeneity? (Note: You do not need to understand everything in the OMIM entries to answerthese questions.)In sweet peas, the given enzymatic pathway result to pigment formation in the flowers: A dihybrid plant is crossed to a white one which is heterozygous at the “C” locus (provided in the image). What is the genotype of the dihybrid plant? What is the genotype of the white plant? What kinds of flowers, colored or white, are to be expected from the cross above? Include the ratio.