Concepts of Genetics (12th Edition)
12th Edition
ISBN: 9780134604718
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino, Darrell Killian
Publisher: PEARSON
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Chapter 14, Problem 14PDQ
Summary Introduction
To determine: The consequences of neglecting of diet by mothers effected by PKU on the health of the newborns.
Introduction: Phenylketonuria refers to an inborn disease that develops when the body is not able to breakdown phenylalanine. This disease is responsible for causing behavioral and mental dysfunctions in the body.
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Tay–Sachs disease is a severe autosomal recessive genetic disease that produces deafness, blindness, seizures, and, eventually, death at 2 to 3 years of age. The disease results from a defect in the HEXA gene, which encodes hexosaminidase A. This enzyme normally degrades GM2 gangliosides. In the absence of hexosaminidase A, GM2 gangliosides accumulate in the brain. The results of molecular studies showed that the most common mutation causing Tay–Sachs disease is a 4-bp insertion that produces a downstream premature stop codon. Results of further studies have revealed that the transcription of the HEXA gene is normal in people who have Tay–Sachs disease, but the HEXA mRNA is unstable. Propose a mechanism to account for how a premature stop codon could cause mRNA instability.
Which of the given disorder can be seen in an individual when the mutation includes substitution of a purine by pyrimidine?
1. Chronic myelogenous leukemia
2. Sickle cell anaemia
3. a thalassemia
4. B thalassemia
Using sickle-cell anemia as an example, describe what is meant by a molecular or genetic disease. What are the similarities and dissimilarities between this type of a disorder and a disease caused by an invading microorganism?
Chapter 14 Solutions
Concepts of Genetics (12th Edition)
Ch. 14 - Prob. 1NSTCh. 14 - A series of mutations in the bacterium Salmonella...Ch. 14 - HbS results from the substitution of valine for...Ch. 14 - Given that a faulty ribosomal protein is the...Ch. 14 - A couple with a child affected with DBA undergoes...Ch. 14 - Prob. 3CSCh. 14 - HOW DO WE KNOW? In this chapter, we focused on the...Ch. 14 - CONCEPT QUESTION Review the Chapter Concepts list...Ch. 14 - Contrast the roles of tRNA and mRNA during...Ch. 14 - Francis Crick proposed the adaptor hypothesis for...
Ch. 14 - During translation, what molecule bears the codon?...Ch. 14 - The chain of eukaryotic hemoglobin is composed of...Ch. 14 - Assuming that each nucleotide in an mRNA is 0.34...Ch. 14 - Summarize the steps involved in charging tRNAs...Ch. 14 - To carry out its role, each transfer RNA requires...Ch. 14 - What are isoaccepting tRNAs? Assuming that there...Ch. 14 - When a codon in an mRNA with the sequence 5-UAA-3...Ch. 14 - Discuss the potential difficulties of designing a...Ch. 14 - Prob. 13PDQCh. 14 - Prob. 14PDQCh. 14 - The synthesis of flower pigments is known to be...Ch. 14 - The study of biochemical mutants in organisms such...Ch. 14 - Explain why the one-gene: one-enzyme concept is...Ch. 14 - Why is an alteration of electrophoretic mobility...Ch. 14 - Prob. 19PDQCh. 14 - Prob. 20PDQCh. 14 - Prob. 21PDQCh. 14 - Prob. 22PDQCh. 14 - Several amino acid substitutions in the and ...Ch. 14 - Define and compare the four levels of protein...Ch. 14 - What are the two common types of protein secondary...Ch. 14 - How do covalent disulfide bonds, hydrogen bonds...Ch. 14 - Prob. 27PDQCh. 14 - List three different types of posttranslational...Ch. 14 - Prob. 29PDQCh. 14 - How does an enzyme function? Why are enzymes...Ch. 14 - Prob. 31PDQCh. 14 - Three independently assorting genes (A, B, and C)...Ch. 14 - How would the results vary in cross (a) of Problem...Ch. 14 - Deep in a previously unexplored South American...Ch. 14 - Many antibiotics are effective as drugs to fight...Ch. 14 - The flow of genetic information from DNA to...Ch. 14 - Prob. 37ESP
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- If an extra nucleotide is inserted in the first exon of the beta globin gene, what effect will it have on the amino acid sequence of the globin polypeptides? Will the globin most likely be fully functional, partly functional, or nonfunctional? Why?arrow_forwardXeroderma pigmentosum is an inherited disorder characterized by rapid formation of many skin sores that develop into cancers. All forms of radiation trigger these symptoms, including fluorescent light, which contains UV light in the range of 320 to 400 nm. In most affected individuals, at least one of nine particular proteins is missing or defective. What is the collective function of these proteins?arrow_forwardXeroderma pimentos is an inherited disorder characterized by rapid formation of many skin sores that develop into cancers. All forms of radiation trigger these symptoms, including fluorescent light, which contains UV light in the range of 320 to 400 nm. In most affected individuals, at least one of nine particular proteins is missing or defective. What is the collective function of these proteins?arrow_forward
- Phenylketonuria is a heritable condition in humans characterized by inability to metabolize the amino acid phenylalanine because of failure to produce the enzyme phenylalanine hydroxylase. Among other symptoms. PKUs develop such severe mental retardation that they almost never reproduce. Phenylketonuria children are born to parent who are not phenylketonuria. In as much as Phenylketonuria so rarely reproduce, why does such a disadvantagous gene persist in the population?arrow_forwardHemoglobin is a complex protein that contains four polypeptide chains. The normal hemoglobin found in adults—called adult hemoglobin— consists of two alpha and two beta polypeptide chains, which are encoded by different loci. Sickle-cell hemoglobin, which causes sicklecell anemia, arises from a mutation in the beta chain of adult hemoglobin. Adult hemoglobin and sickle-cell hemoglobin differ in a single amino acid: the sixth amino acid from one end in adult hemoglobin is glutamic acid, whereas sickle-cell hemoglobin has valine at this position. After consulting the genetic code provided in Figure 15.10, indicate the type and location of the mutation that gave rise tosickle-cell anemia.arrow_forwardA person in shock may have pale, cold, and clammy skin and a rapid and weak pulse. What is the role of the autonomic nervous system in producing these symptoms? Discuss how drugs that influenceautonomic activity might be used to treat someone in shock.arrow_forward
- Identical twins have been studied extensively to help us understand the inheritance of traits in humans. We have long believed that the sequence of nucleotides in our genes was the ultimate determinant of protein function. If that is true, what could explain the observations that one identical twin can have asthma but not the other? What about when one identical twin has severe depression and not the other?arrow_forwardConsider the following peptide sequence: Lys-Leu-Ile-Cys-Lys What is the net charge of this sequence at physiological pH? a. -2 b. +1 c. 0 d. -1 e. +2arrow_forwardBased on the sensitivity of DNA to DNase I, as illustrated in Figure , which type of chicken hemoglobin (embryonic or adult) is likely to be produced in the highest quantity in the following tissues and developmental stages? Q. Brain cells throughout developmentarrow_forward
- Is the information in Pic. consistent with the hypothesis that dietary restriction can slow the aging process?arrow_forwardIsoleucine to phenylalamine is a non conservative mutation???arrow_forwardDiscuss the potential difficulties of designing a diet to alleviate the symptoms of phenylketonuria.arrow_forward
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