Genetics: Analysis and Principles
6th Edition
ISBN: 9781259616020
Author: Robert J. Brooker Professor Dr.
Publisher: McGraw-Hill Education
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Chapter 27, Problem 2QSDC
Discuss the role of mutation in the origin of genetic polymorphisms. Suppose that a genetic polymorphism involves two alleles at frequencies of 0.45 and 0.55. Describe three different scenarios to explain these observed allele frequencies. You can propose that the mutations that produced the polymorphism are neutral, beneficial, or deleterious.
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One particularly useful feature of the Hardy-Weinberg equation is that it allows us to estimate the frequency of heterozygotes for recessive genetic diseases, assuming that Hardy-Weinberg equilibrium exists. As an example, let’s consider cystic fibrosis, which is a human genetic disease involving a gene that encodes a chloride transporter. Persons with this disorder have an irregularity in salt and water balance. One of the symptoms is thick mucus in the lungs that can contribute to repeated lung infections. In populations of Northern European descent, the frequency of affected individuals is approximately 1 in 2500. Because this is a recessive disorder, affected individuals are homozygotes. Assuming that the population is in Hardy-Weinberg equilibrium, what is the frequency of individuals who are heterozygous carriers?
Achondroplasia is a form of dwarfism that is inherited in humans as an autosomal dominant disorder. A survey in a small country showed that, within a two-year period, there were 24 children with normal parents born with this disorder out of a total of 16,789 births. What is the mutation rate in mutations/locus/generation? answer to the nearest 0.0001.
Chapter 27 Solutions
Genetics: Analysis and Principles
Ch. 27.1 - A gene pool is a. all of the genes in a single...Ch. 27.1 - 2. In natural populations, most genes...Ch. 27.1 - A gene exists in two alleles designatedDandd. If...Ch. 27.1 - Prob. 4COMQCh. 27.2 - Which of the following is a factor that, by...Ch. 27.3 - 1. Darwinian fitness is a measure...Ch. 27.3 - 2. Within a particular population, darkly colored...Ch. 27.3 - 3. A population occupies heterogeneous...Ch. 27.3 - Prob. 4COMQCh. 27.4 - 1. Genetic drift is
a. a change in allele...
Ch. 27.4 - 2. Which of the following influences on genetic...Ch. 27.5 - Gene flow depends on a. migration. b. the ability...Ch. 27.6 - 1. Inbreeding is sexual reproduction between...Ch. 27.7 - The mutation rate is a. the likelihood that a new...Ch. 27.7 - 2. The transfer of an antibiotic resistance gene...Ch. 27.7 - Prob. 3COMQCh. 27 - 1. What is the gene pool? How is a gene pool...Ch. 27 - Prob. 2CONQCh. 27 - Prob. 3CONQCh. 27 - Prob. 4CONQCh. 27 - The termpolymorphismcan refer to both genes and...Ch. 27 - Prob. 6CONQCh. 27 - For a gene existing in two alleles, what are the...Ch. 27 - 8. In a population, the frequencies of two...Ch. 27 - The ability to roll your tongue is inherited as a...Ch. 27 - What evolutionary factors can cause allele...Ch. 27 - What is the difference between a neutral and an...Ch. 27 - Prob. 12CONQCh. 27 - Prob. 13CONQCh. 27 - Describe the similarities and differences among...Ch. 27 - 15. Is each of the following examples due to...Ch. 27 - Prob. 16CONQCh. 27 - Prob. 17CONQCh. 27 - 18. A group of four birds flies to a new location...Ch. 27 - 19. Describe what happens to allele frequencies as...Ch. 27 - With regard to genetic drift, are the following...Ch. 27 - When two populations frequently intermix due to...Ch. 27 - Two populations of antelope are separated by a...Ch. 27 - Prob. 23CONQCh. 27 - 24. Using the pedigree shown here, answer the...Ch. 27 - A family pedigree is shown here. A. What is the...Ch. 27 - 26. A family pedigree is shown here.
A. What is...Ch. 27 - Prob. 27CONQCh. 27 - Prob. 28CONQCh. 27 - 1. You will need to be familiar with the...Ch. 27 - You will need to refer to question 2 in More...Ch. 27 - Prob. 3EQCh. 27 - Prob. 4EQCh. 27 - You will need to refer to question 2 in More...Ch. 27 - Prob. 6EQCh. 27 - Prob. 7EQCh. 27 - In the Grants study of the medium ground finch, do...Ch. 27 - 9. A recessive lethal allele has achieved a...Ch. 27 - Among a large population of 2 million gray...Ch. 27 - In a donor population, the allele frequencies for...Ch. 27 - Prob. 12EQCh. 27 - Prob. 13EQCh. 27 - Prob. 14EQCh. 27 - 15. What would you expect to be the minimum...Ch. 27 - Discuss examples of positive and negative...Ch. 27 - Discuss the role of mutation in the origin of...Ch. 27 - Prob. 3QSDC
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- Asthma is a common medical condition that is influenced by genetics and environment. In the US, appraximately 9% of adults have asthma. A recent genome wide association study (GWAS) identifieda genetic variation that increases asthma risk by S0% when a single copy of the risk variant is present in a genome. Which value below would represent the approximate asthma risk of an individual with this genetic variation in their genome? Select an answer and submit. For keyboard navigation, use the up/down arrow keys to select an answer. a 59% b 50% 14.5% 9.5% e 9%arrow_forwardExplain why conditional alleles are important when we want to study lethal mutations.arrow_forwardSickle cell anemia is a genetic disease most common in those of African ancestry that results from the mutation of a single basepair. This mutation results in a change to the hemoglobin protein. In this experiment, “S” will represent the normal allele and “s” thesickle allele. They are codominant alleles. Therefore, SS is normal, Ss is not fatal but mildly symptomatic, and ss is debilitating,painful, and often fatal. After hundreds or even thousands of generations, both alleles are still common in those of African ancestry. How would you explain this?arrow_forward
- Huntington's disease is a very rare, debilitating disease that affects approximately 1 in 10,000 people. The disease is caused by a particular type of genetic mutation (large number of CAG repeats) in a gene called huntingtin (HTT). Designate the disease-causing allele HTTP and the non-disease- causing allele HTTN. We know that individuals with genotype HTTN will not develop Huntington's Disease, but people with either HTTD/HTTP or HTTN/HTTD will develop the disease. Which allele is dominant--HTTN or HTTP? Explain your reasoning thoroughly, using the correct definition of dominance.arrow_forwardHow can you use this piece of information to help you explain to your friends what is the significance of mutations in the emergence of new genetic properties (alleles) that may result (or not) in new phenotypic characteristics? (Recall that not all SNPs affect phenotype.)arrow_forwardUntil very recently, the fitness of an individual getting familial retinoblastoma was zero, and if the frequency of babies with the inherited disease is 1/20000, what is the best estimate of the mutation rate of the wild type allele to the non-functional form?arrow_forward
- Which of the following statements about paramutation is false?a. A paramutagenic allele can alter the expression of paramutableallele.b. A paramutagenic allele has a lower level of expression comparedto a paramutable allele.c. The paramutation alters the DNA sequence of the paramutagenicallele.arrow_forwardWith a named example of each, explain the difference between a mutation and a polymorphism.arrow_forwardFollowing the analysis of a pedigree, a genetic link at 4cM is considered between a mutation leading to a pathology and the molecular marker HUMTH01. The study counts 14 "parental" and 3 "recombinant" individuals. We call p(theta=0.04) is the probability of obtaining such a pedigree in case of a 4cM genetic linkage, p(theta=0.5) is the probability of obtaining such a pedigree in case of independence between the mutation and the marker, Z(theta=0.04) the value of the Lod-score under the assumption of 4cM genetic linkage. Tick all the correct answers: p(theta=0,04)=1,79.10E-9 and Z(theta=0,04)=0,47 p(theta=0,5)=7,18.10E-12 and Z(theta=0,04)=0,77 and Z(theta=0,04)=0,67 p(theta=0,04)=2,75.10E-10 p(theta=0,5)=6,04.10E-10 and Z(theta=0,04)=0,47 p(theta=0,5)=9,36.10E-12 and Z(theta=0,04)=1,33 p(theta =0,5)=5,82.10E-11 and Z(theta=0,04)=0,67 no correct answer p(theta=0,04)=4,31.10E-11 p(theta=0,04)=2,01.10E-10 and Z(theta=0,04)=0,77 and Z(theta=0,04)=1,33arrow_forward
- For each of the following outcomes of a mutation – write if the mutated allele would increase in frequency or decrease in frequency over time? Mutation that is harmful: Mutation that is beneficial: Mutation that has no effect:arrow_forwardConsider the case of a hypothetical genetic disease called WhySciEleven (WSE), an inherited disease that results to the inability to complete production of an amino acid “moduleactivity” that results in brain damage if untreated. WSE is due to a recessive allele. Given one WSE occurrence per 10,000 births. Which term in the Hardy-Weinberg equation corresponds to the frequency of individuals who have no alleles for the disease WSE? a. p b. 2pq c. p2 d. q2arrow_forwardA certain form of congenital glaucoma is caused by an autosomalrecessive allele. Assume that the mutation rate is 10-5 and that peoplewith this condition produce, on the average, only about 80% of theoffspring produced by people who do not have glaucoma.a. At equilibrium between mutation and selection, what will the frequencyof the gene for congenital glaucoma be?b. What will the frequency of the disease be in a randomly matingpopulation that is at equilibrium?arrow_forward
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