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 16QP
Familial 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?
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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.
This pedigree traces the inheritance of a rare disease in humans.
a. Based on this pedigree, is the allele for this disease dominant or recessive? Explain.
b. What genotypes are possible for the individuals labeled 1, 2, and 3?
Achondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…
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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Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.Similar questions
- Four human pedigrees are shown in the accompanying illustration. The black symbols represent an abnormal phenotype inherited in a simple Mendelian manner.a. For each pedigree, state whether the abnormal condition is dominant or recessive. Try to state the logic behind your answer. b. For each pedigree, describe the genotypes of as many persons as possible.arrow_forwardGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a disorder that affects the normal function of red blood cells and can eventually lead to anemia. The trait is controlled by a recessive allele found on the X chromosome. An affected son was born to a man and woman who were unaffected. The woman’s mother was affected while the father was normal. a. Indicate the gene notation. b. Give the genotypes of the affected boy’s parents. c. Derive the genotypic and phenotypic ratios for the offspring. Show and label your solutions properly. d. What is the probability that they will have a phenotypically normal daughter as their first child? e. If they have four children, what is the probability that three out of their four children will be normal and one will be affected?arrow_forwardThe following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.arrow_forward
- Prader-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_forwardSuppose a man carries a very uncommon dominant mutation for a deadly muscular disease that doesn't show up until people are usually over 50 years of age (he has the disease). He and his wife are expecting their first child--a girl. What is the probability she will also have the disease if... (1) it is autosomal(2) it is X-linked(3) it is Y-linked Explain each answer in detail. Assume the penetrance of the trait is 100%.arrow_forwardthe pedigree below shows the inheritance of a newly identified eye color gene. Assume 100% penetrance and expressivity. Use the pedigree to find: 1. Identify the mode of inheritance (either autosomal dominant, or autosomal recessive) 2. Argue why your mode of inheritance must be correct. Your argument should cite specific individuals from the pedigree. (For example, the top left individual is person I-1).arrow_forward
- Using the pedigree, assume that the disease is caused by an autosomal dominant allele, R. Give the genotype of the following individuals: (a) III-4 (the girl at lower right) (b) II-3 (the girl’s mother) (c) II-4 (the girl’s father)arrow_forwardImagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well.Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.Iarrow_forwardPlease consider the following pedigree. Assume that people who marry in to the family do not carry the allele unless otherwise indicated. Assume complete penetrance. image attached a. Is it possible for the inheritance pattern for the trait illustrated in this pedigree to be as a result of each of the following? Answer yes or no. (i) an autosomal recessive allele (AR)(ii) an autosomal dominant allele (AD)(iii) a X-linked recessive allele (XR)(iv) a X-linked dominant allele (XD) b. Provide a set of parents that definitively supports your answers in (a).arrow_forward
- You are discussing the genetic pedigree of a client with a history of autosomal dominant disease in his family. You explain that while a recessive mutation requires both copies of the gene to be mutated in order to cause clinical disease, an autosomal dominant mutation can cause disease when only one copy of the gene is affected. Describe the different mechanisms by which dominance occurs, giving examples of each.arrow_forwardThe attached image is a pedigree of a family with a history of sickle cell anemia (the individuals with the filled-in symbols have the disease and no new mutations are occurring in any individual). Sickle cell anemia is inherited in an autosomal recessive manner. What is the probability that the individual with the question mark (?) will get the disease? a) 1/4 b) 1/2 c) 2/3 d) 1arrow_forwardTwo related forms of muscular dystrophy—Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)—are both recessive, X-linked, single-gene conditions caused by point mutations, deletions, and insertion in the dystrophin gene. Each mutated form of dystrophin is one allele. Of the two diseases, DMD is much more severe. Given your knowledge of mutations, the genetic code, and translation, propose an explanation for why the two disorders differ greatly in severity.arrow_forward
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