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QUESTION

Part 1: below is a pedigree for a neurological disease that you recently identified in a population of domestic cats. Use the information displayed...

Part 1: below is a pedigree for a neurological disease that you recently identified in a population of domestic cats. Use the information displayed in the pedigree to answer all questions for Part 1.

(a)  What is the most likely pattern of inheritance of this neurological disease, based on this pedigree? What are the most likely genotypes of cats A, C, and E?

(b)  Imagine that cat E mated with a cat that is homozygous for the disease-associate allele, and produced 8 offspring. How many of those offspring would you expect to show symptoms of the disease? Explain your answer.

(c)  Imagine that you sampled 100,000 cats and calculated the genotype frequencies of the two alleles, where D is the dominant allele and d is the recessive allele. The calculated genotype frequencies were: DD = 0.65; Dd = 0.28; dd = 0.07. Is this population in Hardy-Weingberg equilibrium? Explain your answer.

Part 2: You recently identified the gene that you think is responsible for this neurological disease (shown in the pedigree above) as GeneZ. You hypothesize that if the gene is responsible for causing the disorder, then the affected individuals must carry a different version of the gene from the non-affected individuals. Answer all parts of the questions below.

(a)  How are chromosomes organized in eukaryotes? What is the role of telomeres in eukaryotic chromosomes and where would you expect to find them?

(b)  Explain how genes of eukaryotic cells differ in complexity from those of prokaryotic cells. What are two defining features that are different between genes of prokaryotes and eukaryotes?

(c)  Draw the structure of a eukaryotic gene that has a promoter, four introns, and four exons. Be sure to clearly label the drawing.

(d)  What is meant by "coding" and "non-coding" regions of a gene? If the mutation in GeneA results in a loss of function of the gene, would you expect the mutation to be found in a "coding" or "non-coding" region of GeneZ? Explain your answer.

Part 3: You purified DNA from the first exon of GeneZ, which you think may be different between the affected and non-affected individuals. Your goal is to determine whether the DNA sequences from these individuals are different.

(a) In order to make lots of copies of the DNA fragment, you cloned it into a plasmid and transformed E. coli. Briefly explain the process that E. coli would use to replicate this plasmid DNA. Where would it start? Be sure to note the roles of primase, helicase, and DNA polymerase in this process.

(b) Briefly explain how Sanger sequencing works and how this method might be applied to determine the sequence of this piece of the DNA from GeneZ. In your answer, be sure to discuss the roles of deoxyNTPs and dideoxyNTPs in Sanger sequencing.

(c) Shown below are sequences of DNA from the first exon of GeneZ. Identify in each sequence the translational start site and the mutation. Would this mutation have any effect on the ability to produce the full, function protein? Why or why not?

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