Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 11, Problem 3QP
Why is it almost impossible to directly measure the mutation rates in autosomal recessive alleles?
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Until 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?
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.
If every human gamete contains approximately 30,000 genes and if the forward mutation rate is between 1 x 10-5 and 1 x 10-6 new mutations per gene per generation, what is the average number of new mutations per gamete per generation?
Chapter 11 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 11.4 - Consumer products including bandages, cotton...Ch. 11.4 - Prob. 2EGCh. 11 - Prob. 1CSCh. 11 - Prob. 2CSCh. 11 - Prob. 3CSCh. 11 - Prob. 1QPCh. 11 - Achondroplasia is an autosomal dominant form of...Ch. 11 - Why is it almost impossible to directly measure...Ch. 11 - What are the factors that influence the mutation...Ch. 11 - Achondroplasia is a rare dominant autosomal defect...
Ch. 11 - Although it is well known that X-rays cause...Ch. 11 - Prob. 7QPCh. 11 - Bruce Ames and his colleagues have pointed out...Ch. 11 - Define and compare the following types of...Ch. 11 - If the coding region of a gene (the exons)...Ch. 11 - Two types of mutations discussed in this chapter...Ch. 11 - Prob. 12QPCh. 11 - A frameshift mutation is caused by a: a....Ch. 11 - In the gene-coding sequence shown here, which of...Ch. 11 - Prob. 15QPCh. 11 - Familial retinoblastoma, a rare autosomal dominant...Ch. 11 - Tay-Sachs disease is an autosomal recessive...Ch. 11 - Replication involves a period of time during which...Ch. 11 - Our bodies are not defenseless against mutagens...Ch. 11 - The cystic fibrosis gene encodes a chloride...
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- Which of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling urine)? It exhibits variable expressivity. The expression of this disease depends on the environment. If the individual removes phenylalanine from their diet they can avoid the disease entirely. PKU alleles are epistatic to alleles of another gene, which acts downstream in phenylalanine metabolism. These individuals supplement their diets with enzymes that break-down phenylalanine.arrow_forwardWhat are mutational breeding?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_forward
- Tay-Sachs disease is caused by loss of function mutation in a gene on chromosome 15 that codes for an enzyme. The disease is an inherited autosomal recessive condition which is found amongst Ashkenazi Jews of Central European origin. In this population, 2 in 4,900 children are born with the disease. What proportion of the population are carriers (heterozygotes) for this disease? ALL WORKING MUST BE SHOWNarrow_forwardA neutral mutation arises in a diploid population of 10,000 individuals. Use this information to answer the following questions. a) What is the probability that the neutral allele goes to fixation? b) Assuming that the neutral mutation eventually goes to fixation, what is the expected time to fixation (in generations)?arrow_forwardTo determine whether radiation associated with the atomic bombings of Hiroshima and Nagasaki produced recessive germ-line mutations, scientists examined the sex ratio of the children of the survivors of the blasts. Can you explain why an increase in germ-line mutations might be expected to alter the sex ratio?arrow_forward
- 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?arrow_forwardIf the frequency of those homozygous for a rare clinically relevant allele that causes an autosomal monogenic recessive condition in a given population of 15 million individuals is 1/8500, how many individuals are likely to be carriers of the causative mutation? Please give your answer as a whole number.arrow_forwardTay–Sachs disease is caused by loss-of-function mutations ina gene on chromosome 15 that encodes a lysosomal enzyme.Tay–Sachs is inherited as an autosomal recessive condition.Among Ashkenazi Jews of Central European ancestry, about1 in 3600 children is born with the disease. What fraction ofthe individuals in this population are carriers?arrow_forward
- Albinism is characterized by the lack of a dark pigment called melanin in the hair, skin and eyes. Albinism is caused by the absence of an functioning enzyme called thyrosinase, which is necessary for the synthesis of melanin. Given this bit of information, what can you assume about the heredity pattern of this trait? A) It is caused by a recessive allele of the gene coding for thyrosinase. B) It is caused by a dominant allele of the gene coding for melanin. C) It is caused by a dominant allele of the gene coding for thyrosinase. D) It is caused by a recessive allele of the gene coding for melanin. E) There is not enough information here to tellarrow_forwardMany people with mutated alleles that are associated with diseases, including some cancers, do not actually develop the disease. How is this possible?arrow_forwardThe role of the TPMT genotype in response to treatment emphasizes the importance of pharmacogenomics. What changes in treatment would be recommended for someone homozygous recessive for TPMT, compared to someone that is homozygous dominant?arrow_forward
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