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Total cholesterol in blood is reported as the number of milligrams (mg) of cholesterol per
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Genetic Analysis: An Integrated Approach (2nd Edition)
- One of your patients, a six-year-old girl who suffers from Sickle cell anemia, an inherited blood disorder in which red blood cells are abnormally shaped and fragile, leading to a short supply of red blood cells. These abnormal cells can also get stuck in small vessels, which prevent blood flow, leading to fatigue, pain, and other severe complications. Patients with sickle cell anemia produce defective beta-globin due to a point mutation that causes the change of a single amino acid residue. This is an example of what type of mutation? nonsense mutation missense mutation frameshift mutation deletion mutationarrow_forwardIn the disease familial hypercholesterolemia (inherited tendency for high blood LDL cholesterol levels), the protein that helps clear cholesterol from the blood (called the LDL receptor) has a single amino acid that is different from the normal protein. This amino acid change greatly reduces the ability to clear cholesterol from the blood, resulting in high cholesterol levels and the risk of heart attack.Which of the following are different (compared to normal) in the person suffering from familial hypercholesterolemia? __The sequence of the mRNA that encodes for the LDL receptor. __The DNA sequence of the gene for the LDL receptor. __The presence of the gene for the LDL receptor. __The amino acid sequence of the LDL receptor.arrow_forwardTay–Sachs disease is a severe autosomal recessive genetic disease that produces deafness, blindness, seizures, and, eventually, death at 2 to 3 years of age. The disease results from a defect in the HEXA gene, which encodes hexosaminidase A. This enzyme normally degrades GM2 gangliosides. In the absence of hexosaminidase A, GM2 gangliosides accumulate in the brain. The results of molecular studies showed that the most common mutation causing Tay–Sachs disease is a 4-bp insertion that produces a downstream premature stop codon. Results of further studies have revealed that the transcription of the HEXA gene is normal in people who have Tay–Sachs disease, but the HEXA mRNA is unstable. Propose a mechanism to account for how a premature stop codon could cause mRNA instability.arrow_forward
- Why B is correct?arrow_forwardAchondroplasia is a form of dwarfism in humans. It is caused by a mutant allele of the fibroblast growth factor receptor 3 gene ( FGFR3) that produces an overactive protein. Having one copy of the mutant allele results in dwarfism. Two copies of the mutant allele results in death before birth. If a man with Achondroplasia marries a woman who is Sickle Cell Anemia carrier and they have a child together, what is the probability that their child will Achondroplasia AND be a Sickle Cell Anemia carrier? ½ 2/3 ¼ 1 ½ 1/16arrow_forwardIf a woman who is a carrier for Tay-Sachs has children with a man who is not a Tay-Sachs carrier, what is the probability that one of their children will be a carrier for Tay-Sachs? (Sketch a Punnett square to help you find the correct answer.) a. None b. 25% c. 50% d. 75% e. 100%arrow_forward
- Which of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling urine)?arrow_forwardSickle cell anemia is an inheritable red blood cell disorder that results in sickle-shaped red blood cells. The sickle-shaped red blood cells can stick to blood vessel walls and cause a blockage or slow the movement of blood throughout the body. Individuals who are heterozygous produce both normal and sickle-shaped red blood cells which gives them resistance to malaria but they do not develop sickle cell anemia (so heterozygotes are unaffected on the pedigree).Let HbS be the allele for sickle cell anemia and let HbA be the allele for normal red blood cells. Which of the following rows provides the correct genotypes for individuals I-2, I-4, II-1, and III-1? Select one: a. I-2 I-4 II-1 III-1 HbA_ HbAHbS HbAHbS HbA_ b. I-2 I-4 II-1 III-1 HbA_ HbAHbS HbAHbS HbAHbS c. I-2 I-4 II-1 III-1 HbAHbS HbAHbS HbAHbS HbAHbS d. I-2 I-4 II-1 III-1 HbAHbA HbAHbA HbAHbA HbAHbAarrow_forwardMany different alleles of a gene may exist in a population, yet each individual within the population does not carry more than two alleles of the gene. Is this true or false? A specific DNA mutation results in the production of a nonfunctional Chloride Ion Channel protein. The wildtype (normal) DNA sequence and the mutant DNA sequence that code for the Chloride Ion Channel protein, would they be considered different alleles of the same gene?arrow_forward
- Hereditary hemochromatosis is an autosomal recessive genetic disorder that causes the body to absorb too much iron from the diet. This excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. A. Symptoms of hereditary hemochromatosis include fatigue, joint pain, arthritis, diabetes, heart disease, skin discoloration, delayed puberty in males, and premature menopause in women. All of these symptoms result a single mutation in a specific gene. Name and define this genetic phenomenon and explain how it relates to this specific genetic situation described above.arrow_forwardWhy is glucose being represented as line B? arrow_forwardA couple who are a carrier of sickle-cell disease with blood type A for the female and type B for the male (assume heterozygosity for blood types). What is the probability that they will have a son with blood type B and is sickle- cell? Please show the solution.arrow_forward
- Human Physiology: From Cells to Systems (MindTap ...BiologyISBN:9781285866932Author:Lauralee SherwoodPublisher:Cengage Learning