Biology: The Unity and Diversity of Life (MindTap Course List)
15th Edition
ISBN: 9781337408332
Author: Cecie Starr, Ralph Taggart, Christine Evers, Lisa Starr
Publisher: Cengage Learning
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Textbook Question
Chapter 14, Problem 6GP
A mutation on an autosome causes a particular protein to be overproduced, and the excess protein accumulates in the liver and damages it. Would the resulting disorder most likely be inherited in an autosomal dominant or recessive pattern?
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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…
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Phenylketonuria (PKU) is a genetic disorder that causes the abnormal metabolism of the amino acid called phenylalanine. PKU is an autosomal recessive disease due to a mutation in the gene encoding the enzyme phenylalanine hydroxylase. Phenylalanine hydroxylase (PAH) usually converts excess phenylalanine into tyrosine. In persons with PKU, the remaining phenylalanine is instead converted into phenylpyruvate (also known as phenylketone). This results in a poisonous build-up of phenylketone in the blood and urine that is why it is called phenylketonuria. When PKU is untreated, it can lead to brain damage, mental retardation and other serious medical problems. Babies with PKU are normal at birth due to the mother’s ability to break down phenylalanine during pregnancy. PKU can be diagnosed through a simple blood test for elevated phenylalanine levels shortly after birth.Answer the following questions:1. What is phenylketonuria (PKU)? How important is the synthesis of correct proteins?2. How…
Chapter 14 Solutions
Biology: The Unity and Diversity of Life (MindTap Course List)
Ch. 14 - Prob. 1DAACh. 14 - Prob. 2DAACh. 14 - Prob. 3DAACh. 14 - Prob. 4DAACh. 14 - Prob. 5DAACh. 14 - Prob. 1SQCh. 14 - Pedigree analysis is necessary when studying human...Ch. 14 - A recognized set of symptoms that characterize a...Ch. 14 - Prob. 4SQCh. 14 - A trait that is present in a male child but not in...
Ch. 14 - Choose the statement that is incorrect. a. A son...Ch. 14 - Prob. 7SQCh. 14 - Prob. 8SQCh. 14 - Klinefelter syndrome (XXY) can most be easily...Ch. 14 - Prob. 10SQCh. 14 - Does the phenotype indicated by the red circles...Ch. 14 - G6PD deficiency is an X-Linked recessive disorder....Ch. 14 - Marian syndrome (Section 13.5) is inherited in an...Ch. 14 - Duchenne muscular dystrophy, which is inherited in...Ch. 14 - Human females have two X chromosomes (XX); males...Ch. 14 - A mutation on an autosome causes a particular...Ch. 14 - Expression of the SRY gene on the Y chromosome...Ch. 14 - The somatic cells of most individuals with Down...Ch. 14 - Mutations in the genes for clotting factor VIII...
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