Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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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.arrow_forwardParents who both have "sickle-cell trait", i.e, are heterozygous for HbS have a child who is tested at birth, and is found to be homozygous for HbS (both alleles affected). What is the molecular reason why the child presents with no symptoms until 6 months of age? a.) the mutation affects the beta chain, which is not dominant at birth b.) the mutation affects the alpha chain, which is not dominant at birth c.) babies cannot be exposed to low oxygen that triggers symptoms d.) babies cannot be exposed to high oxygen that triggers symptomsarrow_forwardHow can a single nucleotide insertion in the beta globin gene generate a phenotypic change in the ability of the red blood cell to transport oxygen?arrow_forward
- Determine which statements could be used as evidence to support the argument that "DNA influences the proteins that are made" and which statements are just facts. [Select all that apply.] The HBB gene that makes beta-globin has several abnormal alleles, including HbS, HbC, and HbE. Sickle cell disease has been successfully treated using bone marrow transplantation in children and adults. The symptoms of sickle cell anemia may not appear in individuals who only carry one HbS allele, but are always apparent when both alleles are HbS. If oxygen is removed from red blood cells made by two HbS alleles, the cell will form a sickle shape.arrow_forward2 I 3 4 5 6 I 7 Sickle cell hemoglobin DNA CACGTAGACTGAGGACAC.. sheet: Deletio... obin DNA C A... globin DNA C... Sickle cell hemoglobin mRNA: Sickle cell hemoglobin Amino Acid sequence: 4. What type of mutation is this? Please explain why.arrow_forwardIn Sickle Cell Anemia, the production of both of the A and S beta-globin peptides in carriers suggests that the Hb beta^A and the Hb beta ^S genes^1 dominance relation is… A) Hb beta A is dominant B) Hb beta S is dominant C) Hb beta A and Hb beta S are codominant D) Hb beta A and Hb beta S are incompletely dominantarrow_forward
- You identify a mouse mutant that has hemophilia and is unable to properly clot blood. Your assays reveal that a novel clotting factor is absent from the blood of the mutant mice. You sequence the genome of the mutant mouse and determine that clotting factor proteins normally associated with hemophilia are all wildtype (no mutations), but the coding sequence of the novel protein differs by one amino acid compared to wildtype. When you synthesize the mutant protein in vitro, it has normal blood clotting activity. Your controls using other mutant hemophilia clotting proteins fail to clot blood in this assay. What would you say the mutant protein results in hemophelia?arrow_forwardRecognize the impact of DNA mutations. Summarize the process of genetic translation.arrow_forwarda. What are the linkage distances between m and r, between r and t, and between m and t?b. Determine the linkage order for the three genes.?c. What is the coefficient of coincidence (see Chapter 4) in this cross? What does it signify?arrow_forward
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