Concept explainers
Total cholesterol in blood is reported as the number of milligrams (mg) of cholesterol per
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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_forwardHemoglobin is a complex protein that contains four polypeptide chains. The normal hemoglobin found in adults—called adult hemoglobin— consists of two alpha and two beta polypeptide chains, which are encoded by different loci. Sickle-cell hemoglobin, which causes sicklecell anemia, arises from a mutation in the beta chain of adult hemoglobin. Adult hemoglobin and sickle-cell hemoglobin differ in a single amino acid: the sixth amino acid from one end in adult hemoglobin is glutamic acid, whereas sickle-cell hemoglobin has valine at this position. After consulting the genetic code provided in Figure 15.10, indicate the type and location of the mutation that gave rise tosickle-cell anemia.arrow_forwardWound infections in burn victims Practice Question #5 After a horrible fire ravaged a bloc of flats, several residents were brought to the hospital for mild to severe burn treatments (see Table 1). Table 1: Patients admitted at the hospital following the fire. Name Age (years) Medical condition Sandra 63 Second-degree burns on 40% of her body Marco 19 Deep third-degree burns on 90% of his legs Alexandre 29 Deep third-degree burns on 35% of his legs Matthieu 58 Superficial burns on his arms and legs Maddie 38 Partial thickness burns on her left arm Matthieu and Maddie, who were less severely burned, were treated with various topical anesthetic ointments and antibiotics, they were released from care and made full recoveries. Severely burned Sandra, Marco, and Alexandre were all moved to an isolated section of the ICU and initially treated through intravenous (for fluid resuscitation) and intra-arterial (for invasive blood pressure monitoring) catheters. After being treated for shock and…arrow_forward
- Sickle cell anemia is a hereditary disease in which a faulty hemoglobin (Hb S) molecule is produced. A single DNA base change, from adenine to thymine, leads to the substitution of valine for glutamic acid leading to the production of hemoglobin S. Discuss the steps involved in the production of this molecule.arrow_forwardTrue or False: An IgM monomer can bind as many as 10 epitopes?arrow_forwardThe protein known as tyrosinase is needed to make certain types of pigments. Tyrosinase is composed of a single polypeptide with 511amino acids. The molecular mass of this protein is approximately61,300 Da, or 61.3 kDa. People who carry two defective copies ofthe tyrosinase gene have the condition known as albinism. They areunable to make pigment in the skin, eyes, and hair. Western blottingis used to detect proteins that are translated from a particularmRNA. This method is described in Chapter 20 and also in experimentalquestion E4. Skin samples were collected from a pigmentedindividual (lane 1) and from three unrelated albino individuals(lanes 2, 3, and 4) and subjected to a Western blot analysis using anantibody that recognizes tyrosinase.arrow_forward
- Bence-Jones protein is a protein with a molecular weight of approximately 150 kDa and is found in high concentration in the urine of Multiple Myeloma patients. Multiple Myeloma is a type of cancer in which lymphocytes multiply and break down bone marrow and bone. Which method would you prefer to show the Bence-Jones protein in the urine for the diagnosis of the disease? Explain the principle of your preferred method.arrow_forwardSickle-cell disease (often called sickle-cell anemia) is a disease that is caused by a mutation to the gene that is responsible for producing the protein hemoglobin. Remember that hemoglobin is a protein in the red blood cells which is responsible for carrying oxygen throughout the body. When a person possesses the mutated hemoglobin allele, their red blood cells take on an altered shape and this results in a variety of symptoms ranging from general weakening of the body, damage to the organs and even death. The sickle cell allele is recessive to the healthy allele, thus only individuals that are homozygous for the recessive allele will have sickle-cell disease. Individuals that are homozygous for the healthy allele, along with heterozygous, individuals will be physically healthy. Question: Given that this mutated allele will cause disease and death in individuals, what would you predict to occur to the frequency of this allele in the population? Explain.arrow_forwardLeber's Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising statement to make? There is not enough information to advise this couple. a. The couple should be advised that all of their children are likely to display symptoms of LHON. b. The couple should be advised that all their female children will display symptoms of LHON, but male children will be unaffected. C. The couple should be advised that all their male children will display symptoms of LHON, but female children will be…arrow_forward
- Leber’s Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising statement to make? a. The couple should be advised that all of their children are likely to display symptoms of LHON. b. There is not enough information to advise this couple. c. The couple should be advised that none of their children will be affected. d. The couple should be advised that all their male children will display symptoms of LHON, but female children will be unaffected. e. The couple should be…arrow_forwardLeber’s Hereditary Optic Neuropathy (LHON) is a disease that involves degeneration of neural cells in the retina and results in loss of central vision. The disease is caused by mutations in any one of three genes in the mitochondrial genome that encode proteins involved in oxidative phosphorylation. In a genetic counseling clinic, a woman and her husband seek advice on the potential that any of their children would be afflicted with LHON. The husband's mother and father, both exhibit symptoms of the disease, but the woman does not. What is a reasonable advising statement to make?arrow_forwardPlease asaparrow_forward