Essentials of Genetics, Books a la Carte Plus Mastering Genetics with eText -- Access Card Package (9th Edition)
9th Edition
ISBN: 9780134319070
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 14, Problem 19PDQ
A number of different types of mutations in the HBB gene can cause human β-thalassemia, a disease characterized by various levels of anemia. Many of these mutations occur within introns or in upstream noncoding sequences. Explain why mutations in these regions often lead to severe disease, although they may not directly alter the coding regions of the gene.
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A significant number of mutations in the HBB gene that cause human b@thalassemia occur within introns or in upstream noncoding sequences. Explain why mutations in these regions often lead to severe disease, although they may not directly alter the coding regions of the gene.
A significant number of mutations in the HBB gene that causehuman β thalassemia occur within introns or in upstream noncodingsequences. Explain why mutations in these regions oftenlead to severe disease, although they may not directly alter thecoding regions of the gene.
Which of the following mutations in the protein-coding region of a gene is more likely to lead to complete loss of function of the encoded protein: an insertion of six nucleotides or a deletion of two nucleotides? Briefly explain your answer.
Chapter 14 Solutions
Essentials of Genetics, Books a la Carte Plus Mastering Genetics with eText -- Access Card Package (9th Edition)
Ch. 14 - CASE STUDY| Genetic dwarfism Seven months...Ch. 14 -
CASE STUDY | Genetic dwarfism
Seven months...Ch. 14 -
CASE STUDY| Genetic dwarfism
Seven months...Ch. 14 - CASE STUDY | Genetic dwarfism Seven months...Ch. 14 -
HOW DO WE KNOW?
1. In this chapter, we focused on...Ch. 14 - Review the Chapter Concepts list on page 257....Ch. 14 - What is a spontaneous mutation, and why are...Ch. 14 -
4. Why would a mutation in a somatic cell of a...Ch. 14 - Why is a random mutation more likely to be...Ch. 14 - Most mutations in a diploid organism are...
Ch. 14 - What is meant by a conditional mutation?Ch. 14 -
8. Describe a tautomeric shift and how it may...Ch. 14 - Contrast and compare the mutagenic effects of...Ch. 14 - Why are frameshift mutations likely to be more...Ch. 14 - Why are X rays more potent mutagens than UV...Ch. 14 -
12. DNA damage brought on by a variety of natural...Ch. 14 - Contrast the various types of DNA repair...Ch. 14 -
14. Mammography is an accurate screening...Ch. 14 - Describe how the Ames test screens for potential...Ch. 14 - What genetic defects result in the disorder...Ch. 14 - In a bacterial culture in which all cells are...Ch. 14 - Human equivalents of bacterial DNA mismatch repair...Ch. 14 - A number of different types of mutations in the...Ch. 14 -
20. Some mutations that lead to diseases such as...Ch. 14 - In maize, a Ds or Ac transposon can cause...Ch. 14 -
22. Presented here are hypothetical findings from...Ch. 14 -
23. Cystic fibrosis (CF) is a severe autosomal...Ch. 14 -
24. Electrophilic oxidants are known to create...Ch. 14 - Skin cancer carries a lifetime risk nearly equal...Ch. 14 -
26. The initial discovery of IS elements in...Ch. 14 -
27. It is estimated that about 0.2 percent of...Ch. 14 -
28. It has been noted that most transposons in...Ch. 14 - Two related forms of muscular dystrophy–Duchenne...
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- Introns in eukaryotic protein-coding genes may be quite large, but almost none are smaller than about 65 bp. What is the reason for this minimum intron size?arrow_forwardA mutation in the first intron of the Minnie gene gives rise to a shorter, truncated form of the Minnie protein that only includes amino-acids encoded by Exon 1 and 3. What kind of mutation in intron 1 could lead to this? Explain how this mutation would lead to a truncated protein.arrow_forwardHuman wildtype and mutant alleles are identical in sequence except for a single base-pair substitution that changes one nucleotide towards the end of intron 2. The wildtype and mutant sequences of the affected portion of the mRNA are listed in the following table. Explain how a single base substitution could alter the reading frame, which could result in a physiological disorder?arrow_forward
- The mRNA sequence 5' AUG AAA CAG GGA UAA 3' encodes a particular peptide of interest to your research team. You have identified a new alternate allele of the sequence 5' AUG AAG CAG GGA UAA 3'. What type of mutation does this alternate sequence illustrate?arrow_forwardIntrons in protein-coding genes of some eukaryotes are rarely shorter than 65 nucleotides long. What might be a rationale for this limitation?arrow_forwardFor a specific type of mutation at a given location in a particular gene, identify whether it will affect the size of the mRNA, the protein, or both. How would the mutant appear on a gel in comparison to the originalarrow_forward
- Consider a single base insertion mutation between the 3rd and 4th codons in a natural gene that encodes a protein 100 amino acids long. Is it more likely that the protein produced by this mutant allele will be shorter or longer than 100 amino acids long?arrow_forwardMost of the mutations that Yanofsky recovered were missense mutations. However, Yanofsky also recovered a nonsense mutation that changed amino acid number 15 into a stop codon. This codon normally encodes Lysine. Does the recovery of this mutation support the hypothesis that this Lysine residue is critical in the function of the tryptophan synthetase protein? Why or why not?arrow_forwardThe following is the only intron sequence of a gene that will be excised during the maturation of the mRNA. But it is not spliced in some tissues, where alternative splicing pattern is seen. Will the amino acid of its protein product following this sequence change? Explain with an example. ATAAGCCAGACTCAGCAarrow_forward
- There may be positive selection on introns if they are adapted to retaining specific stem-loop structures. Such an adaptation is called itsarrow_forwardHuntington’s disease is a hereditary central nervous system disorder characterized by tandem repeats of the sequence 5'-CAG-3' in the gene that encodes a protein called huntingtin. The disease is progressive from generation to generation, meaning that in later generations the number of CAG repeats increases and the age of onset of symptoms decreases. Refer to Figure 21.4 and describe the sort of evidence supporting the generational increase in the number of CAG repeats.arrow_forwardThe following is the only intron sequence of a gene that will be excised during the maturation of the mRNA. But it is not spliced in some tissues, where alternative splicing pattern is seen. Will the amino acid of its protein product following this sequence change? Explain with an example. ATGATAGCCAGACTCGCAarrow_forward
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