Genetics: From Genes to Genomes
6th Edition
ISBN: 9781259700903
Author: Leland Hartwell Dr., Michael L. Goldberg Professor Dr., Janice Fischer, Leroy Hood Dr.
Publisher: McGraw-Hill Education
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Chapter 15, Problem 22P
The first person in the family represented by the pedigree shown here who exhibited symptoms of the mitochondrial disease MERFF was II-2.
| a. | What are two possible explanations of why the mother I-1 was unaffected but daughter II-2 was affected? |
| b. | How could you differentiate between the two possible explanations? |
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A rare blinding disease that has a relation to dengenerative factors is partially penetrant. In the following pedigrees for two families, the affected symptomatic individuals (black circles and squares) have been diagnosed with this disease due to the mutation in mitochondrial DNA m.14484T>C.
If III.4 is homoplasmic for m.14484T>C in hair, blood, urine and other tissues examined. What will occur with IV.7 then?
Explain why it is possible for the proband in the following pedigree to have children of blood types A, B, and AB. Considering epistatic genes, what are the possible genotypes of II-2?
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Chapter 15 Solutions
Genetics: From Genes to Genomes
Ch. 15 - Match each numbered item with the most closely...Ch. 15 - Assuming human cells have on average 1000...Ch. 15 - Reverse translation is a term given to the process...Ch. 15 - The human nuclear genome encodes tRNAs with 32...Ch. 15 - The human mitochondrial genome includes no genes...Ch. 15 - How do you know if the halibut you purchased at...Ch. 15 - Is each of these statements true of chloroplast or...Ch. 15 - Suppose you are characterizing the DNA of a...Ch. 15 - An example of a gene-targeting DNA plasmid vector...Ch. 15 - Which of the following characteristics of...
Ch. 15 - The Saccharomyces cerevisiae nuclear gene ARG8...Ch. 15 - The so-called hypervariable regions HV1 and HV2 of...Ch. 15 - Suppose a new mutation arises in a mitochondrial...Ch. 15 - Describe at least two ways in which the...Ch. 15 - Why are severe mitochondrial or chloroplast gene...Ch. 15 - Suppose you are examining a newly found plant...Ch. 15 - A form of male sterility in corn is inherited...Ch. 15 - Plant breeders have long appreciated the...Ch. 15 - A mutant haploid strain of Saccharomyces...Ch. 15 - Prob. 20PCh. 15 - What characteristics in a human pedigree suggest a...Ch. 15 - The first person in the family represented by the...Ch. 15 - In 1988, neurologists in Australia reported the...Ch. 15 - If you were a genetic counselor and had a patient...Ch. 15 - Kearns-Sayre syndrome KSS, Pearson syndrome, and...Ch. 15 - Many clinically relevant mitochondrial diseases...Ch. 15 - Leigh syndrome is characterized by psychomotor...Ch. 15 - All mutations in mitochondrial genes ultimately...Ch. 15 - How could researchers have determined that the...
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- This pedigree depicts the inheritance of the mitochondrial disease Leber hereditary optic neuropathy (LHON). Individual I-1 does not show any symptoms of LHON, whereas her daughter and all three of her grandchildren are affected. Provide two explanations for this.arrow_forwardTake the example of B-thalassemia, an autosomal recessive genetic disease that particularly affects people from around the Mediterranean. This disease is associated with an anomaly of hemoglobin, a protein essential for the transport of oxygen, which is composed of four chains: two alpha (a) and two beta (B). In case of B-thalassemia, the ẞ chains are produced in insufficient or no quantity in an individual homozygous recessive resulting in insufficient production of overall hemoglobin leading to anemia and other physiological challenges. The gene that controls the synthesis of the ẞ chains is located on chromosome 11. Here is part of the coding portion of this gene (which controls a total of 146 amino acids and of which you only see the portion 36 to 41) and one of the targeted mutations: 1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it? 3. Using the principles of the theory of evolution, explain briefly and generally why…arrow_forwardIn the accompanying pedigree, the vertical lines stand for protan color blindness, and the horizontal lines stand for deutan color blindness. These are separate conditions causing different misperceptions of colors; each is determined by a separate gene.a. Does the pedigree show any evidence that the genes are linked? b. If there is linkage, does the pedigree show any evidence of crossing over? Explain your answers to parts a and b with the aid of the diagram. c. Can you calculate a value for the recombination between these genes? Is this recombination by independent assortment or by crossing over?(picture added)arrow_forward
- Shown below is a pedigree for Phenylketonuria (PKU), an autosomal recessive metabolic disorder. The characteristic feature of PKU is severe mental retardation A) What is the probability that individual II-1 is heterozygous for this gene? B) What is the probability that individual III-4 is heterozygous for this gene? C) If individuals III-3 and III-4 were to marry, what is the probability that their child would express PKU?arrow_forwardwhat is the pattern of inheritance shown in this pedigree? Please provide evidence.arrow_forward2a) Identify the pattern of Mendelian inheritance represented in the pedigree above. 2b) Explain how you made this determination.arrow_forward
- The DNA of every individual in the pedigree shown below has been sequenced at the causative locus. All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this autosomal dominant condition, but they exhibit no symptoms. Based on this small pedigree, what is the level of penetrance for the condition? Please give your answer as a WHOLE percentage, give the number only, no percentage symbol. Answer: The level of penetrance for the condition shown in the pedigree below is Blank 1 percent. 1:1 1:2 Il:1 I1:2 I1:3 Il:4 I1:5 I1:6 II:1 I:2 III:3 III:4 III:3 III:6 III:7 III:8 III:9 III:10 III:11 III12 II:13 III:14 IV:1 | IV:2 IV:3 IV:4 IV:5 IV:6 IV:7 IV:8 IV:9 IV:10 IV:11 IV:12 IV:13 IV:14 IV:15 IV:16 IV:17 IV:18 IV:19 V:1 V:2 V:3 V:4 V:5 V:6 V:7 V:8 V:9 V:10 V:11 V:12arrow_forwarda) In pedigree B What fraction of polydactylous female is in generation iii? b) for pedigree A, describe the phynotype of male and female children in generation ii.arrow_forwardWhich of the pedigrees shown above could be one showing the inheritance of a non-lethal mitochondrial disease?arrow_forward
- Which members of the pedigree could have been carriers, and which might have been the source of the mutation?arrow_forwardFamilial 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?arrow_forwardGalactosemia is a recessive human disease that istreatable by restricting lactose and glucose in the diet.Susan Smithers and her husband are both heterozygous for the galactosemia gene.a. Susan is pregnant with twins. If she hasfraternal (nonidentical) twins, what is theprobability both of the twins will be girls whohave galactosemia?b. If the twins are identical, what is the probabilitythat both will be girls and have galactosemia?For parts (c–g), assume that none of the children isa twin.c. If Susan and her husband have four children, whatis the probability that none of the four will havegalactosemia?d. If the couple has four children, what is the probability that at least one child will have galactosemia?e. If the couple has four children, what is the probability that the first two will have galactosemia andthe second two will not?f. If the couple has three children, what is the probability that two of the children will have galactosemia and one will not, regardless of order?g. If…arrow_forward
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