Essentials of Genetics (9th Edition) - Standalone book
9th Edition
ISBN: 9780134047799
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 14, Problem 16PDQ
What genetic defects result in the disorder xerodermapigmentosum (XP) in humans? How do these defects create the pheno types associated with the disorder?
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Chapter 14 Solutions
Essentials of Genetics (9th Edition) - Standalone book
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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- What is the genetic basis and phenotype for each of the following disorders (use proper genetic notation)? a. Edwards syndrome b. Patau syndrome c. Klinefelter syndrome d. Down syndromearrow_forwardWhat is the relationship between beta-amyloid and the protein APP? How does the APP protein differ in a person with the Alzheimer's-risk version of this gene compared to the neurotypical populations?arrow_forwardJunctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the entire body. The disorder is caused by autosomal recessive mutations at any one of three loci that help to encode laminin 5, a major component in the dermal–epidermal basement membrane. Leena Pulkkinen and colleagues described a male newborn who was born with JEB and died at 2 months of age (L. Pulkkinen et al. 1997. American Journal of Human Genetics 61:611–619); the child had healthy, unrelated parents. Chromosome analysis revealed that the infant had 46 normal-appearing chromosomes. Analysis of DNA showed that his mother was heterozygous for a JEB-causing allele at the LAMB3 locus, which is on chromosome 1. The father had two normal alleles at this locus. DNA fingerprinting demonstrated that the male assumed to be the father had, in fact, conceived the child. Q. Assuming that no new mutations occurred in this family, explain the presence of an autosomal recessive disease in the child…arrow_forward
- Junctional epidermolysis bullosa (JEB) is a severe skin disorder that results in blisters over the entire body. The disorder is caused by autosomal recessive mutations at any one of three loci that help to encode laminin 5, a major component in the dermal–epidermal basement membrane. Leena Pulkkinen and colleagues described a male newborn who was born with JEB and died at 2 months of age (L. Pulkkinen et al. 1997. American Journal of Human Genetics 61:611–619); the child had healthy, unrelated parents. Chromosome analysis revealed that the infant had 46 normal-appearing chromosomes. Analysis of DNA showed that his mother was heterozygous for a JEB-causing allele at the LAMB3 locus, which is on chromosome 1. The father had two normal alleles at this locus. DNA fingerprinting demonstrated that the male assumed to be the father had, in fact, conceived the child. Q. How might you go about proving your explanation? Assume that a number of genetic markers are available for each chromosome.arrow_forwardPancreatic cancer is clearly inherited as an autosomal dominant trait in the family illustrated in Figure 23.1. Yet most cases of pancreatic cancer are sporadic, appearing as isolated cases in families with no obvious inheritance. How can a trait be strongly inherited in one family and not inherited in another?arrow_forwardWhat category of genetic disorders does albinism disorder fit into ( single gene defect, multifactorial defect, mitochondrial disorder or chromosome abnormalities)? Explainarrow_forward
- Albinism is characterized by the lack of a dark pigment called melanin in the hair, skin and eyes. Albinism is caused by the absence of an functioning enzyme called thyrosinase, which is necessary for the synthesis of melanin. Given this bit of information, what can you assume about the heredity pattern of this trait? A) It is caused by a recessive allele of the gene coding for thyrosinase. B) It is caused by a dominant allele of the gene coding for melanin. C) It is caused by a dominant allele of the gene coding for thyrosinase. D) It is caused by a recessive allele of the gene coding for melanin. E) There is not enough information here to tellarrow_forward13) Use the image below of the X and Y sex chromosomes of a human to answer the following question. Which of the following statements is true? A) This person is a female with Haemophilia. B) This person is a male with Ocular Albinism. C) This person is a female with Ocular Albinism. D) This person is a male with no sex linked genetic disorders. X Ocular albinism Duchenne muscular dystrophy Androgen insensitivity Severe combined immunodeficiency Haemophilia Colour blindness Y DOLD SRY Sex determination AZF Sperm developmentarrow_forwardWhat causes short stature in Turner syndrome?arrow_forward
- 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…arrow_forwardWhy Recessive CF disease alleles either produce no CFTR or produce nonfunctional or less functional versions of the protein?arrow_forwardWhat causes the genetic disorder Down syndrome?arrow_forward
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