ND STONY BROOK UNIVERSITY LOOSELEAF GENETICS: FROM GENES TO GENOMES
6th Edition
ISBN: 9781260406092
Author: HARTWELL, Leland, HOOD, Leroy, Goldberg, Michael
Publisher: Mcgraw-hill Education/stony Brook University
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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.
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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?
Take 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:
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Chapter 15 Solutions
ND STONY BROOK UNIVERSITY LOOSELEAF 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_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_forwardShown 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_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
- a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease? Explain your reasoning. b. Based your answer to part a, give the most likely genotypes for all family members in the pedigree.arrow_forwardThe following pedigree shows the inheritance of a mutation that causes the mitochondrial disease MERFF. Below each individual who carries the mutation is the level of severity of the disease (mild, moderate, or severe). I mild ооо mild moderate moderate severe mild Which of the following statements likely explain this observation? (Select all correct answers.) Individual 1.1 is heteroplasmic for the mutation that causes MERFF Individual 1.1 is homoplasmic for the mutation that causes MERFF Individual 1.1 is homozygous for the mutation that causes MERFFarrow_forwardHemophilia A is caused by a sex-linked recessive gene in human and in dogs. a. What proportions (and sexes), among their offspring will be hemophiliacs if a hemophilic male is mated to a homozygous nonhemophilic female?b. If a daughter produced by the mating in (a) is mated to a normal male, what proportions and (sexes) will be hemophilic among their offspring?arrow_forward
- Salim and Sara are contemplating having children, but Salim’s brother has galactosemia and Sara’s great-grandmother also had galactosemia. Sara has a sister who has three children, none of whom is affected.a. Construct a genetic pedigree for this family showing the possible genotype of each member.b. What is the probability that Salim and Sara’s first child will have galactosemia? Explain your calculations.arrow_forwardThe pedigree below represents a disease that is very rare in the human population. Answer the two questions below. A ? a.) What is the mode of inheritance? b.) What is the probability that the child indicated with "A" will inherit the disease? Show you work for this question.arrow_forwardAdult hemoglobin is a multimeric protein with fourpolypeptides, two of which are α-globin and two ofwhich are β-globin.a. How many genes are needed to define the structureof the hemoglobin protein?b. If a person is heterozygous for wild-type allelesand alleles that would yield amino acid substitutionvariants for both α-globin and β-globin, how manydifferent kinds of hemoglobin protein would befound in the person’s red blood cells and in whatproportion? Assume all alleles are expressed at thesame level.arrow_forward
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