Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 10, Problem 5QP
Questions 4 through 6 refer to the following hypothetical pathway in which substance A is converted to substance C by enzymes 1 and 2. Substance B is the intermediate produced in this pathway:
a. If the first individual in Question 4 married the second individual, would their children be able to convert substance A into substance C?
b. Suppose each of the adults mentioned in part a was heterozygous for an autosomal dominant mutation that prevents any enzyme function. List the
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PART 3– Sex Linkage
Hemophilia is a recessive sex-linked disorder in which an important clotting factor
protein (Factor VIII) is not produced in a functional form. Queen Victoria was a
carrier of the recessive Factor VIII allele, meaning she carried the allele but was
asymptomatic. Recently, historians have discovered that she secretly had an affair
with the Austrian Count Chocula, who, unbeknownst to her, was a hemophiliac.
Naturally, the Royal Family fought to have this information suppressed, but it was
revealed that they had many children together.
1. Using the correct allele notation, write the genotypes for Queen Victoria and
Count Chocula.
2. In the Punnett Square below, show the cross between the Queen and the Count.
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Question 15: Consider the consequence if one of the mutations you tested for complementation
was a dominant mutation. You should see that complementation tests could not be used to provide
information about dominant mutations.
a) If a mutation were dominant how would your interpretation of the phenotype of the diploid be
altered?
No change would occur v
b) How would you test whether any of these trp mutations were dominant?
There is no way to test fc V
Hemophilia 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?
Chapter 10 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 10.4 - Prob. 1GRCh. 10.4 - Prob. 2GRCh. 10.7 - Prob. 1EGCh. 10.7 - Prob. 2EGCh. 10 - A couple was referred for genetic counseling...Ch. 10 - A couple was referred for genetic counseling...Ch. 10 - A couple was referred for genetic counseling...Ch. 10 - Many individuals with metabolic diseases are...Ch. 10 - Prob. 2QPCh. 10 - Enzymes have all the following characteristics...
Ch. 10 - Questions 4 through 6 refer to the following...Ch. 10 - Questions 4 through 6 refer to the following...Ch. 10 - Prob. 6QPCh. 10 - Prob. 7QPCh. 10 - Prob. 8QPCh. 10 - a. Compounds A, B, C, and D are known to be...Ch. 10 - b. Compounds A, B, C, and D are known to be...Ch. 10 - a. If an individual who is homozygous for the...Ch. 10 - Prob. 12QPCh. 10 - Suppose that in the formation of phenylalanine...Ch. 10 - If phenylalanine was not an essential amino acid,...Ch. 10 - Phenylketonuria and alkaptonuria are both...Ch. 10 - The normal enzyme required for converting sugars...Ch. 10 - Knowing that individuals who are homozygous for...Ch. 10 - Prob. 18QPCh. 10 - A person was found to have very low levels of...Ch. 10 - If an extra nucleotide is inserted in the first...Ch. 10 - Transcriptional regulators are proteins that bind...Ch. 10 - Prob. 22QPCh. 10 - Prob. 23QP
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- 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.What is the percentage level of penetrance for the condition in the diagram?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_forwardPhenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage, in the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood when the brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems. QUESTION: Describe the results depicted in Fig. 1 Use the first question to provide an explanation for these observations. What type of genetic…arrow_forward
- Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage, in the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood when the brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems. Describe the results depicted in Fg1. and us it to provide an explanation for these observations What type of genetic effect is…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_forwardPrader-Willi syndrome is caused by a mutation in anautosomal maternally imprinted gene. Label the following statements as true or false, assuming that thetrait is 100% penetrant.a. Sons of affected males have a 50% chance of showing the syndrome.b. Daughters of affected males have a 50% chance ofshowing the syndrome.arrow_forward
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