Genetics: Analysis and Principles
6th Edition
ISBN: 9781259616020
Author: Robert J. Brooker Professor Dr.
Publisher: McGraw-Hill Education
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Chapter 25, Problem 13CONQ
Summary Introduction
To review:
From thepedigree chart whether the syndrome is autosomal recessive, autosomal dominant, X-linked dominant, or X-linked recessive.
Introduction:
The Lesch-Nyhan syndrome is caused due to a mutation which occurs in the enzymecalled the hypoxanthine-guaninephosphoribosyltransferase (HPRT). This enzyme helps in the
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Chapter 25 Solutions
Genetics: Analysis and Principles
Ch. 25.1 - Which of the following wouldnotbe consistent with...Ch. 25.1 - 2. Assuming complete penetrance, which type of...Ch. 25.1 - 3. Which of the following is not a common...Ch. 25.1 - Prob. 4COMQCh. 25.2 - Prob. 1COMQCh. 25.2 - Haplotype association studies are aimed at the...Ch. 25.3 - 1. Which of the following is not a method used in...Ch. 25.3 - 2. Which of the following prenatal genetic testing...Ch. 25.4 - Prob. 1COMQCh. 25.5 - 1. An oncogene is produced from a ________that has...
Ch. 25.5 - Which of the following is a type of genetic change...Ch. 25.5 - 3. Tumor-suppressor genes promote cancer...Ch. 25.5 - 4. Normal (nonmutant) tumor-suppressor genes often...Ch. 25.5 - Prob. 5COMQCh. 25.6 - Prob. 1COMQCh. 25 - 1. With regard to pedigree analysis, make a list...Ch. 25 - 2. Explain, at the molecular level, why human...Ch. 25 - 3. Many genetic disorders exhibit locus...Ch. 25 - Prob. 4CONQCh. 25 - Prob. 5CONQCh. 25 - Figure 25.1 illustrates albinism in two different...Ch. 25 - Prob. 7CONQCh. 25 - Prob. 8CONQCh. 25 - Ehler-Danlos syndrome is a rare disorder caused by...Ch. 25 - 10. Hurler syndrome is due to a mutation in a gene...Ch. 25 - Like Hurler syndrome, Fabry disease involves an...Ch. 25 - Achondroplasia is a rare form of dwarfism caused...Ch. 25 - Prob. 13CONQCh. 25 - 14. Marfan syndrome is due to a mutation in a...Ch. 25 - 15. Sandhoff disease is due to a mutation in a...Ch. 25 - Describe the two assumptions that underlie the...Ch. 25 - Prob. 17CONQCh. 25 - What is a prion? Explain how a prion relies on...Ch. 25 - 19. Some people have a genetic predisposition for...Ch. 25 - What is the difference between an oncogene and a...Ch. 25 - Prob. 21CONQCh. 25 - Prob. 22CONQCh. 25 - Prob. 23CONQCh. 25 - Prob. 24CONQCh. 25 - Prob. 25CONQCh. 25 - Prob. 26CONQCh. 25 - Prob. 27CONQCh. 25 - With regard to cancer cells, which of the...Ch. 25 - Prob. 29CONQCh. 25 - 1. Which of the following experimental...Ch. 25 - Prob. 2EQCh. 25 - 3. What is meant by the term genetic testing? How...Ch. 25 - Prob. 4EQCh. 25 - 5. Chapter 21 describes a method known as Western...Ch. 25 - 6. An experimental assay for the blood-clotting...Ch. 25 - 7. Discuss ways to distinguish whether a...Ch. 25 - 8. The codon change (Gly-12 to Val-12) in...Ch. 25 - Explain how DNA microarrays are used in molecular...Ch. 25 - Make a list of the benefits that may arise from...Ch. 25 - 2. Our government has finite funds to devote to...Ch. 25 - Prob. 3QSDC
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- 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…arrow_forwardOne of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and use the information and link-outs from the page to answer the following question. GIVE YOUR ANSWER AS A NUMBER ONLY, NO UNITS: What is the size in amino acid residues of the CACNA1S transcript named CACNA1S-202? Answer: The size of the CACNA1S transcript named CACNA1S-202 is how many amino acid residues.arrow_forwardOne of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and ensure that you click to reveal the transcript table. Then use the information in the table to answer the following question. PLEASE GIVE YOUR ANSWER AS A NUMBER ONLY, NO UNITS What is the size in base pairs of the CACNA1S transcript named CACNA1S-202? Answer: The size of the CACNA1S transcript named CACNA1S-202 isarrow_forward
- One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and use the information and link-outs from the page to answer the following questions ANSWER ONLY IN UPPERCASE LETTERS, NO UNITS: Using the left-hand menu to view the sequence for CACNA1S, what are the last three nucleic acid bases of exon 1?arrow_forwardOne of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and use the information and link-outs from the page to answer the following question. What is the NCBI accession number (including the version) of the RefSeq Match for the first transcript (CACNA1S-201)?arrow_forwardCompare and contrast the molecular and phenotypic features of Prader-Willi and Angelman syndromes.arrow_forward
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- The pedigree here shows the inheritance of a human disease knownas familial hypercholesterolemia. This disorder is characterized by an elevated level of serumcholesterol in the blood. Though relatively rare, this geneticabnormality can be a contributing factor to heart attacks. At themolecular level, this disease is caused by a defective gene thatencodes a protein called low-density lipoprotein receptor (LDLR).In the bloodstream, serum cholesterol is bound to a carrier proteinknown as low-density lipoprotein (LDL). LDL binds to LDLR,which enables cells to absorb cholesterol. When LDLR is defective,it becomes more difficult for the cells to absorb cholesterol. Thisexplains why the blood level of cholesterol remains high. Basedon the pedigree, what is the most likely pattern of inheritance ofthis disorder?arrow_forwardAn experimental assay for the blood-clotting protein called factorIX is available. A blood sample was obtained from each individual in the following pedigree. The amount of factor IX protein, shown within each symbol on the pedigree, is expressed as a percentage of the average amount observed in individuals who do not carry a mutant copy of the gene.arrow_forwardLeber congenital amaurosis (LCA) is a form of congenital blindness in humans and is known to be caused by homozygosity for recessive mutations in the RPE65 gene. Recently, a rare dominant mutation in RPE65 has been implicated as one cause of an eye disease called retinitis pigmentosa, which is characterized by retinal degeneration that can progress to blindness. The dominant RPE65 mutation is a missense mutation causing amino acid 447 in the polypeptide to change from Asp to Glu. Little is known about the nature of the mutant protein. a. Do you think that the dominant allele is more likely a loss-of-function or a gain-of-function mutation? Explain. b. Recently a group of clinicians and scientists reported that gene therapy (gene replacement therapy) for LCA has been at least partially successful. Do you think that the same kind of gene therapy can be used for patients with retinitis pigmentosa caused by the dominant mutant allele of RPE65? Explain.arrow_forward
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