You have identified a SNP marker that in one largefamily shows no recombination with the locus causinga rare hereditary autosomal dominant disease.Furthermore, you discover that all afflicted individuals in the family have a G base at this SNP on theirmutant chromosomes, while all wild-type chromosomes have a T base at this SNP. You would like tothink that you have discovered the disease locus andthe causative mutation but realize you need to consider other possibilities.a. What is another possible interpretation of the results?b. How would you go about obtaining additional genetic information that could support or eliminateyour hypothesis that the base-pair difference is responsible for the disease?

You have identified a SNP marker that in one largefamily shows no recombination with the locus causinga rare hereditary autosomal dominant disease.Furthermore, you discover that all afflicted individuals in the family have a G base at this SNP on theirmutant chromosomes, while all wild-type chromosomes have a T base at this SNP. You would like tothink that you have discovered the disease locus andthe causative mutation but realize you need to consider other possibilities.a. What is another possible interpretation of the results?b. How would you go about obtaining additional genetic information that could support or eliminateyour hypothesis that the base-pair difference is responsible for the disease?

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Description: You have identified a SNP marker that in one largefamily shows no recombination with the locus causinga rare hereditary autosomal dominant disease.Furthermore, you discover that all afflicted individuals in the family have a G base at this SNP on the

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

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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?
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