Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
expand_more
expand_more
format_list_bulleted
Concept explainers
Videos
Textbook Question
Chapter 3, Problem 18P
The gene causing Coffin–Lowry syndrome (OMIM 303600) was recently identified and mapped on the human X chromosome. Coffin–Lowry syndrome is a rare disorder affecting brain morphology and development. It also produces skeletal and growth abnormalities, as well as abnormalities of motor control. Coffin–Lowry syndrome affects males who inherit a mutation of the X-linked gene. Most carrier females show no symptoms of the disease but a few carriers do. These carrier females are always less severely affected than males. Offer an explanation for this finding.
Expert Solution & Answer
Want to see the full answer?
Check out a sample textbook solution
Students have asked these similar questions
Lauren reports that she had a maternal male cousin (through a maternal aunt) and a maternal great uncle (maternal grandmother’s brother) both pass away from the same x-linked lethal condition. Both affected individuals did not have genetic testing. Lauren has a normal carrier screen for x-linked lethal conditions, which you know identifies 40% of causative mutations. If Lauren is currently pregnant with a male child, what is the chance that this child will have the condition?
Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1).
Is this mutation likely to cause Duchenne muscular…
One of the most famous cases of an X-linked recessive mutation in humans is that of hemophilia found in the descendants of Britain’s Queen Victoria. The pedigree of the royal family indicates that Victoria was heterozygous for the trait; however, her father was not affected, and no other member of her maternal line appeared to carry the mutation. What are some possible explanations of how the mutation arose? What types of mutations could lead to the disease?
Chapter 3 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. 3 - Examine the following diagrams of cells from an...Ch. 3 - Our closest primate relative, the chimpanzee, has...Ch. 3 -
3. In a test of his chromosome theory of...Ch. 3 - Cohesion between sister chromatids, as well as...Ch. 3 - 5. The diploid number of the hypothetical animal...Ch. 3 - 6. An organism has alleles R1 and R2 on one pair...Ch. 3 - Explain how the behavior of homologous chromosomes...Ch. 3 - 8. Suppose crossover occurs between the homologous...Ch. 3 -
9. Alleles A and a are on one pair of autosomes,...Ch. 3 - Prob. 10P
Ch. 3 - Describe the role of the following structures or...Ch. 3 - A womans father has ornithine transcarbamylase...Ch. 3 - In humans, hemophilia A (OMIM 306700) is an...Ch. 3 -
14. A wild-type male and a wild-type female...Ch. 3 - 15. A woman with severe discoloration of her tooth...Ch. 3 - 16. In a large metropolitan hospital, cells from...Ch. 3 - In cats, tortoiseshell coat color appears in...Ch. 3 - 18. The gene causing Coffin–Lowry syndrome (OMIM...Ch. 3 - 19. Four eye-color mutants in Drosophila—apricot,...Ch. 3 - 20. For each pedigree shown,
a. Identify which...Ch. 3 - 21. Use the blank pedigrees provided to depict...Ch. 3 - 22. Figure 3.22 (page 89) illustrates reciprocal...Ch. 3 - 23. In fruit flies, yellow body (y) is recessive...Ch. 3 - 24. In a species of fish, a black spot on the...Ch. 3 - LeschNyhan syndrome (OMIM 300322) is a rare...Ch. 3 - 26. In humans, SRY is located near a...Ch. 3 - 27. In an 1889 book titled Natural Inheritance...Ch. 3 - 28. In Drosophila, the X-linked echinus eye...Ch. 3 - 29. A wild-type Drosophila male and female are...Ch. 3 - 30. Drosophila has a diploid chromosome number of...Ch. 3 - The cell cycle operates in the same way in all...Ch. 3 - 33. Form a small discussion group and decide on...Ch. 3 - 34. Duchenne muscular dystrophy (DMD; OMIM 310200)...Ch. 3 - Prob. 35P
Knowledge Booster
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.Similar questions
- Duchenne muscular dystrophy is an X-linked, recessive disorder in which muscles waste away early in life, resulting in death in the teens or twenties. A man and woman in their late thirties have five children—three boys (ages 1, 3, and 10 years) and two girls (ages 5 and 7 years). The oldest, boy shows symptoms of the disease. What are the probabilities that their other children will develop the disease? Give only typing answer with explanation and conclusionarrow_forwardNormal vision (XA) in humans is dominant to color blindness (Xa) and is X-linked. A man with normal vision, whose father was colorblind, marries a colorblind woman. What are the chances that a son will be colorblind? What are the chances that a daughter will be colorblind? The determiner for brown eyes (B) is dominant to blue eyes (b) and is not X-linked. A colorblind man with brown eyes, whose mother was blue-eyed, marries a blue-eyed woman having normal vision, whose father was colorblind. Show the expected phenotypes ratio of their children involving eye color, color blindness, and sex.arrow_forwardThe Xg cell-surface antigen is coded for by a gene located on the X chromosome. No equivalent gene exists on the Y chromosome. Two codominant alleles of this gene have been identified: Xg1 and Xg2. A woman of genotype Xg2/Xg2 bears children with a man of genotype Xg1/Y, and they produce a son with Klinefelter syndrome of genotype Xg1/Xg2Y. Using proper genetic terminology, briefly explain how this individual was generated. In which parent and in which meiotic division did the mistake occur?arrow_forward
- In humans, the genes for red-green color blindness (R = normal, r = color blind) and hemophilia A (H = normal, h = hemophilia) are both X-linked and only 3 map units apart. Suppose a woman has four sons, and two are color blind but have normal blood clotting and two have hemophilia but normal color vision. What is the probable genotype of the woman? HR/hr Hr/hr hr/hR Hr/hR HR/Hrarrow_forwardIn Drosophila, the X-linked recessive mutation vermilion (v) causes bright red eyes, in contrast to the brick-red eyes of wild type. A separate autosomal recessive mutation, suppressor of vermilion (su-v), causes flies homozygous or hemizygous for v to have wildtype eyes. In the absence of vermilion alleles, su-v has no effect on eye color. Determine the F1 and F2 phenotypic ratios from a cross between a female with wild-type alleles at the vermilion locus, but who is homozygous for su-v, with a vermilion male who has wildtype alleles at the su-v locusarrow_forwardDuchenne Muscular Dystrophy (DMD) is a disease that manifests in muscle weakness. It exhibits X-linked recessive inheritance pattern. The dystrophin gene is large and can have many different mutations along the DNA. From the following mutations between the gene sequence (DNA template strand) of a healthy male and an affected brother determine if they would affect the production of mRNA or the sequence of the protein. Base your analysis on the position of the mutation in the transcription unit, and the impact of the change on the codons. Mutation 1: Position -6 Healthy individual A Affected brother C Group of answer choices A. Normal mRNA, normal protein B. No mRNA produced (promoter affected) C. Abnormal mRNA, affected protein D. Normal mRNA, affected protein Base your analysis on the position of the mutation in the transcription unit, and the impact of the change on the codons.arrow_forward
- What is a Barr body? How many Barr bodies in a person with genotype XXXXX? How is the structure of a Barr body different from that of other chromosomes in the cell? How does the structure of a Barr body affect gene expression? Color-blindness is an X-linked recessive trait. Heterozygous females are not color blind but they can sometimes have partial color blindness. Explain how this can occur.arrow_forwardConsider a couple: a woman who is homozygous for a recessive mutation that causes X-linked colorblindness, and a man with full color vision (he does not carry a copy of the mutation). a) What is the probability that a son of this couple will be colorblind? b) What is the probability that a daughter of the couple will be colorblind?arrow_forwardIn man, muscular dystrophy is a condition in which the muscles waste away during early life and may result in a shorter life expectancy. It is due to a sex-linked, recessive gene. A certain couple has five children – three boys (ages 1yr, 3yrs, and 10yrs old) and two girls (ages 5yrs and 7yrs old). The oldest boy shows the symptoms of this disease. You are their family physician and they come to you for advice. What would you tell them about the chances of their other children developing the disease?arrow_forward
- Human females who are heterozygous for an X-linked recessive allele sometimes exhibit mild expression of the trait. However, such mild expression of X-linked traits in females who are heterozygous for Xlinked alleles is not seen in Drosophila. What might cause this difference in the expression of X-linked genes between human females and female Drosophila? (Hint: In Drosophila, dosage compensation is accomplished by doubling the activity of genes on the X chromosome of males.)arrow_forwardAssuming no other abnormalities, classify each of the following human sex chromosome complements as to whether or not individuals with that complement will be morphologically male or female. Three human sex chromosome complements will be classified as male and three will be classified as female. XXY XYY XXX XO XY XXarrow_forwardCongenital hypertrichosis (CH) is a very rare X-linked dominant inherited condition. CH is characterized by the growth of dark hair over the body. CH is so rare, only 50 cases have been identified since the Middle Ages. The incidence of this condition is considerably higher in a small Mexican village (from which the partial pedigree below is derived) than the rest of the human population. I II III Use the following information to answer the two questions. IV D II-4 8 9 IV-6 0=10~ 11 1. Using appropriate nomenclature, identify the genotypes for the following 2 individuals: 12 13 your response must include an appropriate legend/key to identify allele symbols. 2. Show how a Punnett square (using the allele symbols from the previous question) is used to determine the probability in percent of individuals III-11 and III-12 next offspring has CH?arrow_forward
arrow_back_ios
SEE MORE QUESTIONS
arrow_forward_ios
Recommended textbooks for you
Human Anatomy & Physiology (11th Edition)BiologyISBN:9780134580999Author:Elaine N. Marieb, Katja N. HoehnPublisher:PEARSON
Biology 2eBiologyISBN:9781947172517Author:Matthew Douglas, Jung Choi, Mary Ann ClarkPublisher:OpenStax
Anatomy & PhysiologyBiologyISBN:9781259398629Author:McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa StouterPublisher:Mcgraw Hill Education,
Molecular Biology of the Cell (Sixth Edition)BiologyISBN:9780815344322Author:Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter WalterPublisher:W. W. Norton & Company
Laboratory Manual For Human Anatomy & PhysiologyBiologyISBN:9781260159363Author:Martin, Terry R., Prentice-craver, CynthiaPublisher:McGraw-Hill Publishing Co.
Inquiry Into Life (16th Edition)BiologyISBN:9781260231700Author:Sylvia S. Mader, Michael WindelspechtPublisher:McGraw Hill Education
Human Anatomy & Physiology (11th Edition)
Biology
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:PEARSON
Biology 2e
Biology
ISBN:9781947172517
Author:Matthew Douglas, Jung Choi, Mary Ann Clark
Publisher:OpenStax
Anatomy & Physiology
Biology
ISBN:9781259398629
Author:McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa Stouter
Publisher:Mcgraw Hill Education,
Molecular Biology of the Cell (Sixth Edition)
Biology
ISBN:9780815344322
Author:Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter Walter
Publisher:W. W. Norton & Company
Laboratory Manual For Human Anatomy & Physiology
Biology
ISBN:9781260159363
Author:Martin, Terry R., Prentice-craver, Cynthia
Publisher:McGraw-Hill Publishing Co.
Inquiry Into Life (16th Edition)
Biology
ISBN:9781260231700
Author:Sylvia S. Mader, Michael Windelspecht
Publisher:McGraw Hill Education
Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY