Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter 4, Problem 27P
Marfan syndrome is an autosomal dominant disorder in humans. It results from mutation of the gene on chromosome
Since all cases of Marfan syndrome are caused by mutation of the fibrillin gene, and all family members with Marfan syndrome carry the same mutant allele, how do you e xplain the differences shown in the pedigree?
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Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1).
Is this mutation likely to cause Duchenne muscular…
Discuss the following mutations with reference to specific genetic disorders: i) Faulty DNA repair; ii) Gain-of-function; and iii) Trinucleotide repeats.
Give steps for each mutations.
Angelica just learned that her paternal uncle, Aaron, passed away from hypertrophic cardiomyopathy (autosomal dominant). Angelica’s father was killed in a duty as a young man, and therefore, his status is unknown. Her two sisters, Eliza and Peggy, have been tested for the known causative mutation in the family and do not have it. What is the chance that Angelica has the familial mutation for HCM?
Group of answer choices
1/33
1/10
1/21
Chapter 4 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. 4 - 1. Define and distinguish incomplete penetrance...Ch. 4 -
2. Define and distinguish epistasis and...Ch. 4 - When working on barley plants, two researchers...Ch. 4 - Fifteen bacterial colonies growing on a complete...Ch. 4 - 5. In a type of parakeet known as a “budgie,”...Ch. 4 - 6. The and blood groups are given below for four...Ch. 4 - The wild-type color of horned beetles is black,...Ch. 4 - 8. Two genes interact to produce various...Ch. 4 - Prob. 9PCh. 4 - 10. In rats, gene produces black coat color if the...
Ch. 4 - 11. In the rats identified in Problem, a third...Ch. 4 - Using the information provided in Problems 10 and...Ch. 4 - 13. Total cholesterol in blood is reported as the...Ch. 4 - 14. Flower color in snapdragons results from the...Ch. 4 - 5. A plant line with reduced fertility comes to...Ch. 4 - Prob. 16PCh. 4 - The coat color in mink is controlled by two...Ch. 4 - Prob. 18PCh. 4 - 19. Feather color in parakeets is produced by the...Ch. 4 - Brachydactyly type D is a human autosomal dominant...Ch. 4 - 21. A male and a female mouse are each from...Ch. 4 - Xerodermapigmentosum (XP) is an autosomal...Ch. 4 - 23. Three strains of green-seeded lentil plants...Ch. 4 - Blue flower color is produced in a species of...Ch. 4 - 25. The following crosses are performed between...Ch. 4 - Two pure-breeding strains of summer squash...Ch. 4 - Marfan syndrome is an autosomal dominant disorder...Ch. 4 - 28. Yeast are single-celled eukaryotic organisms...Ch. 4 - Prob. 29PCh. 4 - Dr. Ara B. Dopsis and Dr. C. Ellie Gans are...Ch. 4 - Human ABO blood type is determined by three...Ch. 4 - In rabbits, albinism is an autosomal recessive...Ch. 4 - Dr. O. Sophila, a close friend of Dr. Ara B....Ch. 4 - In a breed of domestic cattle, horns can appear on...Ch. 4 - Prob. 35PCh. 4 - Prob. 36PCh. 4 - 37. Epistatic gene interaction results in a...Ch. 4 - 38. Draw a pedigree containing two parents and...
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- Junctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the entire body. The disorder is caused by autosomal recessive mutations at any one of three loci that help to encode laminin 5, a major component in the dermal–epidermal basement membrane. Leena Pulkkinen and colleagues described a male newborn who was born with JEB and died at 2 months of age (L. Pulkkinen et al. 1997. American Journal of Human Genetics 61:611–619); the child had healthy, unrelated parents. Chromosome analysis revealed that the infant had 46 normal-appearing chromosomes. Analysis of DNA showed that his mother was heterozygous for a JEB-causing allele at the LAMB3 locus, which is on chromosome 1. The father had two normal alleles at this locus. DNA fingerprinting demonstrated that the male assumed to be the father had, in fact, conceived the child. Q. How might you go about proving your explanation? Assume that a number of genetic markers are available for each chromosome.arrow_forwardLesch-Nyhan syndrome is due to a mutation in a gene that encodesa protein called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT is an enzyme that functions in purine metabolism.People afflicted with this syndrome have severe neurodegenerationand loss of motor control. The pedigree below contains severalindividuals with Lesch-Nyhan syndrome, shown with blacksymbols. Based on this pedigree, does this syndrome appearto be inherited by an autosomal recessive, autosomal dominant,X-linked recessive, or X-linked dominant pattern? Explainyour reasoning.arrow_forwardDuchenne Muscular Dystrophy (DMD) is a disease that manifests in muscle weakness. It exhibits X-linked recessive inheritance pattern. The dystrophin gene is large and can have many different mutations along the DNA. From the following mutations between the gene sequence (DNA template strand) of a healthy male and an affected brother determine if they would affect the production of mRNA or the sequence of the protein. Base your analysis on the position of the mutation in the transcription unit, and the impact of the change on the codons. Mutation 1: Position -6 Healthy individual A Affected brother C Group of answer choices A. Normal mRNA, normal protein B. No mRNA produced (promoter affected) C. Abnormal mRNA, affected protein D. Normal mRNA, affected protein Base your analysis on the position of the mutation in the transcription unit, and the impact of the change on the codons.arrow_forward
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