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.
All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this Autosomal Dominant condition, but they exhibit no symptoms.What is the percentage level of penetrance for the condition in the diagram?
Alpha thalassemia is a hereditary blood condition that results in varying levels of anemia. It is tied to the HB alpha 1 gene and the HB alpha 2 gene on human chromosome 16.
The diagram shows the proteins for the hemoglobin genes and the pedigree shows genotypes, designated by the letter X, on the chromosomes for a family affected by the condition.
Which represents the predicted level of anemia in a child born to the mother and father in the image with a mutation that results in a genotype of xxxx? Why?
A - mild anemia because the loss of 4 genes would equal the loss of the 4 proteins needed for normal alpha hemoglobin
B - severe anemia because the loss of 4 genes would equal the loss of the 4 proteins needed for normal alpha hemoglobin
C - mild anemia because the addition of 4 genes would produce too many of the proteins needed for normal alpha hemoglobin
D - severe anemia because the addition of 4 genes would produce too many of the proteins needed for normal alpha hemoglobin
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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