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 19, Problem 21ESP
Prader–Willi syndrome (PWS) is a genetic disorder with a clinical profile of obesity, intellectual disability, and short stature. It can be caused in several ways. Most common is a deletion on the paternal copy of chromosome 15, but it can also be caused by an epigenetic imprinting disorder, and uniparental disomy, an event in which the affected child receives two copies of the maternal chromosome 15. A child with PWS comes to your clinic for a diagnosis of the molecular basis for this condition. The gel below shows the results of testing with short tandem repeats (STRs) from the region of chromosome 15 associated with the disorder.
- (a) Is this case caused by a deletion in the paternal copy of chromosome 15? Explain.
- (b) Based on your interpretation of the data, what is the cause of PWS in this case? Explain your reasoning.
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Duchenne 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.
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…
In 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?
Chapter 19 Solutions
Concepts of Genetics (12th Edition)
Ch. 19 - Although histone modifications can activate or...Ch. 19 - Prob. 2NSTCh. 19 - Prob. 1CSCh. 19 - Prob. 2CSCh. 19 - A couple well informed about the epigenetic...Ch. 19 - Prob. 1PDQCh. 19 - Prob. 2PDQCh. 19 - Prob. 3PDQCh. 19 - Prob. 4PDQCh. 19 - Prob. 5PDQ
Ch. 19 - Prob. 6PDQCh. 19 - Prob. 7PDQCh. 19 - Prob. 8PDQCh. 19 - Prob. 9PDQCh. 19 - Prob. 10PDQCh. 19 - What are the functions of IncRNAs in epigenetic...Ch. 19 - Prob. 12PDQCh. 19 - What are the differences and similarities among...Ch. 19 - Prob. 14PDQCh. 19 - Prob. 15PDQCh. 19 - Should fertility clinics be required by law to...Ch. 19 - Prob. 17PDQCh. 19 - Prob. 18PDQCh. 19 - A developmental disorder in humans called spina...Ch. 19 - Prob. 20PDQCh. 19 - PraderWilli syndrome (PWS) is a genetic disorder...Ch. 19 - Prob. 22ESPCh. 19 - Prob. 23ESPCh. 19 - Methylation of H3K9 by itself silences genes, but...
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