Genetic Analysis: An Integrated Approach (2nd Edition)
2nd Edition
ISBN: 9780321948908
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter 12, Problem 39P
Ataxia telangiectasia
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Hurler syndrome is due to a mutation in a gene that encodes aprotein called α-l-iduronidase. This protein functions withinlysosomes as an enzyme that breaks down mucopolysaccharides(a type of polysaccharide that has many acidic groups attached).When this enzyme is defective, excessive amounts of the mucopolysaccharides dermatan sulfate and heparin sulfate accumulatewithin the lysosomes, especially in liver cells and connectivetissue cells. This accumulation leads to symptoms such as anenlarged liver and spleen, bone abnormalities, corneal clouding,heart problems, and severe neurological problems. The pedigreebelow contains three members affected with Hurler syndrome,indicated with black symbols. Based on this pedigree, does thissyndrome appear to follow autosomal recessive, autosomaldominant, X-linked recessive, or X-linked dominant inheritance?Explain your reasoning.
Recall that Leber congenital amaurosis (LCA), a formof congenital blindness in humans, can be caused byhomozygosity for recessive mutations in the RPE65gene. Recently, a rare dominant mutation in RPE65has been implicated as one cause of an eye diseasecalled retinitis pigmentosa, which is characterized byretinal degeneration that can progress to blindness.The dominant RPE65 mutation is a missense mutation causing amino acid 447 in the polypeptide tochange from Asp to Glu. Little is known about thenature of the mutant protein.a. Do you think that the dominant allele is morelikely a loss-of-function or a gain-of-functionmutation? Explain.b. As described in this chapter, gene therapy for LCAhas been at least partially successful. Do you thinkthat the same kind of gene therapy can be used forpatients with retinitis pigmentosa caused by thedominant mutant allele of RPE65? Explain.
Describe how polymorphisms is found at 13910-C/T and 22018-G/A in the regulatory area of the lactase gene (LCT). And elaborate the mechanism for two polymorphisms causing mutation from 13910-C/T and 22018-G/A to 13910-C/C or 22018-G/G variants in lactase intolerance disorder. also, how LCT gene is corelated to lactase intolerance disorder?
Chapter 12 Solutions
Genetic Analysis: An Integrated Approach (2nd Edition)
Ch. 12 - 11.1 Identify two general ways chemical mutagens...Ch. 12 - 11.2 Nitrous acid and (BU) alter DNA by different...Ch. 12 - 11.19 Using the adeninethymine base pair in this...Ch. 12 - The partial amino acid sequence of a wild-type...Ch. 12 - 5. Thymine is usually in its normal, common form....Ch. 12 - Ultraviolet (UV) radiation is mutagenic.
What...Ch. 12 - Researchers interested in studying mutation and...Ch. 12 - The effect of base - pair substitution mutations...Ch. 12 - Prob. 9PCh. 12 - 11.10 In numerous population studies of...
Ch. 12 - 11.11 Two different mutations are identified in a...Ch. 12 - 11.22 Many human genes are known to have homologs...Ch. 12 - 11.13 Answer the following questions concerning...Ch. 12 - Prob. 14PCh. 12 - Prob. 15PCh. 12 - Prob. 16PCh. 12 - 11.15 A sample of the bacterium is exposed to...Ch. 12 - 11.16 A strain of is identified as having a null...Ch. 12 - Define gene conversion and contrast it with gene...Ch. 12 - Prob. 20PCh. 12 - Prob. 21PCh. 12 - Prob. 22PCh. 12 - Prob. 23PCh. 12 - Prob. 24PCh. 12 - 25. If homologous recombination did not occur,...Ch. 12 - In this chapter, three features of genes or of DNA...Ch. 12 - Briefly compare the production of DNA double -...Ch. 12 - During mismatch repair, why is it necessary to...Ch. 12 - 11.27 Following the spill of a mixture of...Ch. 12 - A geneticist searching for mutations uses the...Ch. 12 - A wild - type culture of haploid yeast is exposed...Ch. 12 - A fragment of a wild - type polypeptide is...Ch. 12 - Prob. 33PCh. 12 - 11.40 Common baker’s yeast () is normally grown at...Ch. 12 - 11.41 The two gels illustrated below contain...Ch. 12 - Alkaptonuria is a human autosomal recessive...Ch. 12 - 11.33 In an experiment employing the methods of...Ch. 12 - Using your knowledge of DNA repair pathways choose...Ch. 12 - 11.35 Ataxia telangiectasia is a human inherited...Ch. 12 - 40. Two haploid strains of fungus are fused to...
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- Considerable effort has been directed toward determining the genes in which sequence variation contributes to the development of type 2 diabetes. Approximately 800 genes have been implicated. Propose an explanation for this observation.arrow_forward5arrow_forwardWhat type of mutation is sickle cell anemia? Explain the molecular basis of sickle cell anemia.arrow_forward
- Two possible point mutations are the substitution of lysine for leucine or the substitution of serine for threonine. Which is likely to be more serious and why?arrow_forwardCx is a member of the family of connexin genes that encode the proteins of gap junction intercellular channels. Cx proteins in one cell form hemi-channels in the plasma membrane. Hemi-channels in adjacent cells dock to form complete intercellular channels through which ions and small molecules diffuse from cell to cell. Distinct Cx mutations were identified in three different families, F1, F2 and F3, affected by the same disease. To study their functional properties, normal (wild type, wt) and mutant (m) Cx proteins were expressed in cultured cells. Translation of the proteins was checked (Fig. 3). A extracellular EC 1 SM TM 1 membrane 2 3 4 F10 intracellular N F2 EC 2 F3 oricand c B 42 kDa C 42 kDa 35 kDa Control wt m-F1 m-F2 PM C PM C PM C PM C Western blot anti-Cx Control wt PM C m-F1 PM C PM C = Metabolically labelled m-F2 PM C m-F3 PM C m-F3 PM C WSEY Fig. 3 mont (A). Membrane topology of Cx protein indicating positions of mutations. Cx is an integral membrane protein with 4…arrow_forwardADH1A alcohol dehydrogenase 1A (class I) Describe a way in which the gene can be manipulated to treat the disease. Assume you can make any changes to the protein product and describe specifically how it will affect its interaction with other molecules.arrow_forward
- The genetic alteration responsible for sickle-cell anemia in humans involves: a transition mutation from A to G, substituting glutamic acid for valine in a-globin a transversion mutation from T to A, substituting valine for glutamic acid in b-globin a transition mutation from T to C, substituting valine for glutamic acid in b-globin a transversion mutation from G to C, substituting glutamic acid for valine in a-globin a frameshift mutation of one ATC codon, removing glutamic acid from b-globinarrow_forwardWhat are some limitations in the use of ASOs for exon-skipping therapies in Duchenne muscular dystrophy? What is the status of current clinical trials for these exon-skipping therapies?arrow_forwardCTP synthetase catalyzes the glutamine-dependent conversion of UTP to CTP. The enzyme is allosterically inhibited by the product, CTP. Mamma- lian cells defective in this allosteric inhibition are found to have a complex phenotype: They require thymidine in the growth medium, they have unbal- anced nucleotide pools, and they have an elevated spontaneous mutation rate. Explain the likely basis for these observations.arrow_forward
- Susceptibility to developing prion diseases arises from a mutation that changes aspartic acid (Asp) to asparagine (Asn). Which nucleotide base changes could make this happen?arrow_forwardOrotic aciduria is a rare hereditary disorder due to deficient orotate phosphoribosyltransferase and orotidine-5'-decarboxylase activities that are encoded by Uridylate (UMP) synthetase gene in de novo pyrimidine biosynthesis. The characteristic of this disorder is excessive excretion of orotic acid in urine. A mutation of UMP synthetase gene has been identified as R96G (at amino acid position 96, Arginine is changed to Glycine). In orotic aciduria, predict the consequences of deficient UMP synthetase by identifying which downstream enzyme missing its action. One of important molecules to be derived from pyrimidine biosynthesis is deoxycytidine triphosphate (dCTP) for DNA replication and repair. How is dCTP synthesized, include what enzymes and important intermediates in the pathway? 3. As thymidine triphosphate (dTTP) is needed for DNA replication and repair, what enzymes and intermediates are required to get dTTParrow_forwardNeurofibromatosis type 1 (NF1) is an inherited is an inheritent dominant disorder. The phenotype usually involves the production of many skin neurofibromas. Answer the following questions about the disorder: a) Are the NF1 neurofibromatosis-causing mutations that are inherited by affected children from affected parents likely to be loss-of-function or gain-of-function mutations? b) Neurofibromin, the protein product of NF1, is associated with the Ras protein. Ras is involved in the transduction of extracellular signals from growth factors. The active form of Ras is complexed with GTP; the inactive form is complexed with GDP. Would the wild-type neurofibromin protein favor the formation of Ras-GTP or Ras-GDP? c) Which of the following events in a normal cell from an individual inheriting a neurofibromatosis-causing allele could cause the descendents of that cell to turn into a neurofibroma? i. A second point mutation in…arrow_forward
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