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Question 4 a) Below is the pedigree for a family with an autosomal recessive disease, disease X A ○= unaffected female affected female unaffected male affected male i)What is the genotype of individual a at the disease X locus? Use"+"to indicate the wildtype allele and "to indicate the mutant allele ii)What is the probability that individual B is a carrier of disease X? ii)Individuals C and d decide to have a child. What is the probability that the child will have disease x? iv) What is the probability that the child of individuals C and d will be a carrier of disease X? b) The most common mutant allele of the disease x gene is a deletion of three nucleotides which eliminates a phenylalanine at amino acid residue 508. Although the mutant X protein is made, it is not localized to the plasma membrane i)Assuming the altered X protein is stable, where might it be found? ii)Describe another mutation in this gene that could prevent the disease X protein from localizing to the plasma membrane Spring 2004 Final exam practiceSpring 2004 Final Exam Practice 6 Question 4 a) Below is the pedigree for a family with an autosomal recessive disease, disease X. ? = unaffected female = affected female = unaffected male = affected male A B C D i) What is the genotype of individual A at the disease X locus? Use “+” to indicate the wildtype allele and “-“ to indicate the mutant allele. ii) What is the probability that individual B is a carrier of disease X? iii) Individuals C and D decide to have a child. What is the probability that the child will have disease X? iv) What is the probability that the child of individuals C and D will be a carrier of disease X? b) The most common mutant allele of the disease X gene is a deletion of three nucleotides which eliminates a phenylalanine at amino acid residue 508. Although the mutant X protein is made, it is not localized to the plasma membrane. i) Assuming the altered X protein is stable, where might it be found? ii) Describe another mutation in this gene that could prevent the disease X protein from localizing to the plasma membrane
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