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 2QP
Achondroplasia is an autosomal dominant form of dwarfism caused by a single gene mutation. Calculate the mutation rate of this gene given the following data: 10 achondroplastic births to unaffected parents in 245,000 births.
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Lesch-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.
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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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