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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The following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.
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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.
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 members of the pedigree could have been carriers, and which might have been the source of the mutation?arrow_forwardA couple who are about to get married learn from studying their family histories that, in both their families, theirunaffected grandparents had siblings with cystic fibrosis(a rare autosomal recessive disease).a. If the couple marries and has a child, what is theprobability that the child will have cystic fibrosis?b. If they have four children, what is the chance that thechildren will have the precise Mendelian ratio of 3:1 fornormal:cystic fibrosis?c. If their first child has cystic fibrosis, what is theprobability that their next three children will be normal?arrow_forwardChands syndrome is an autosomal recessive condition characterized by very curly hair, underdeveloped nails, and abnormally shaped eyelids. In the pedigree below: Which individuals must be carriers (heterozygotes)? ----- arrow_forward
- The 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_forwardAnn's family has a history of cystic fibrosis, a recessive genetic disease. In the pedigree, family members who are afflicted with the disease are shown in red. Members who are unafflicted may or may not be carriers. Which of the given family members can be identified definitively as unafflicted carriers of cystic fibrosis?arrow_forwardPhenylketonuria (PKU) is a disease that results from a recessive gene.Suppose that two unaffected parents produce a child with PKU. a. What is the probability that a sperm from the father will contain the PKU allele?b. What is the probability that an egg from the mother will contain the PKU allele?c. What is the probability that their next child will have PKU?d. What is the probability that their next child will be heterozygous for the PKU gene?arrow_forward
- The pedigree pictured is of an extended family where a large percentage of family members develop colon cancer at an early age. In this family, individuals either get colon cancer before the age of 16, or they don’t get it at all. a) Based on the information you have been given, what evidence, if any, suggests an inherited contribution to the development of this disease? b) You take a medical history of all 33 people in the pedigree and discover that a large percentage drink a special coffee on a daily basis, while others do not. The individuals who do not drink coffee are I-1, II-2, II-4, II-9, III-7, III-13, IV-1, and IV-3. Could drinking this special coffee play a role in colon cancer? Explain.arrow_forwardThe pedigree below shows that inheritance of a disease that is caused by a late onset, dominant, autosomal mutation that is rare, but only 50% penetrant. The gene that is mutated in the disease is linked at a distance of 10 cm to a microsatellite marker that has alleles numbered 1, 2, and 3. The marker alleles detected in each individual are indicated below. What is the probability that individual A will develop the disease? Explain using an illustration of this occurs.arrow_forwardTake 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: 1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it? 3. Using the principles of the theory of evolution, explain briefly and generally why…arrow_forward
- Pedigree Analysis Is a Basic Method in Human Genetics Using the pedigree provided, answer the following questions. a. Is the proband male or female? b. Is the grandfather of the proband affected? c. How many siblings does the proband have, and where is he or she in the birth order?arrow_forwardAs a physician, you deliver a baby with protruding heels and clenched fists with the second and fifth fingers over-lapping the third and fourth fingers. a. What genetic disorder do you suspect the baby has? b. How do you confirm your suspicion?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
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