Concept explainers
Familial hypercholesterolemia (FH) is an inherited trait in humans that results in higher-than-normal serum cholesterol levels [measured in milligrams of cholesterol per deciliter of blood (mg/dl)]. People with serum cholesterol levels that are roughly twice normal have a 25 times higher frequency of heart attacks than unaffected individuals. People with serum cholesterol levels three or more times higher than normal have severely blocked arteries and almost always die before they reach the age of 20. The following pedigrees show the occurrence of FH in four Japanese families:
a. | What is the most likely mode of inheritance of FH based on these data? Do any |
individuals in any of these pedigrees not fit your hypothesis? What special | |
conditions might account for such individuals? | |
b. | Why do individuals in the same |
symbols) show such variation in their levels of serum cholesterol? |
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Genetics: From Genes to Genomes
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- The terminal sugars of the antigenic determinants of A and B blood groups are: O a. N-acetyl-galactosamine and N-acetyl glucosamine O b. D-galactose and N-acetyl glucosamine O c. N-acetyl-D-glucosamine and L-fucose O d. N-acetyl-galactosamine and D-galactosearrow_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_forwardSickle cell anemia is a genetically inherited autosomal recessive trait in which results in a condition that there are not enough healthy red blood cells to carry oxygen throughout the body due to the production of red blood cells that are sickle shaped. The frequency of the sickle cell condition is as high as 10% in Central Africa compared to 0.5% in the United States. Calculate the frequency of the normal and carries of the sickle cell condition.arrow_forward
- Neurofibromatosis 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_forwardGiven the information regarding sickle cell anemia, if two carriers were to have children, what would be the genotypes and phenotypes of their children? Would any of the children show symptoms of the disease?arrow_forwardWhat would be the phenotypes for each of the following genotypes for Huntington’s Disease? a. Hh = b. hh =arrow_forward
- There is a benign congenital condition called Hereditary Persistence of Fetal Hemoglobin (HPFH) in which production of the fetal hemoglobin (HbF) is not switched off post-partum (after birth). It is due to a mutation in the β-globin gene cluster. People that are homozygotes for this mutation, meaning that the gene from both parents is mutated, continue to make almost exclusively HbF throughout their life rather than adult hemoglobin (HbA). HPFH homozygotes demonstrate a slight erythrocytosis, or an increase in the number or mass of their red blood cells, and consequently an increase in the concentration of HbF. Given only what you know about the oxygen saturation dynamics of HbF versus HbA, can you explain why there might be the slight erythrocytosis in HPFH homozygotes? It has been observed that the prevalence of HPFH is much higher in populations with certain hemoglobinopathic disorders such as sickle cell anemia, and is selected for in populations with a high prevalence of these…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_forwardHereditary 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 young couple, Bart and Jenny, are expecting a child and are aware there might be a chance that their child could be affected by this disorder. Jenny (the wife) has ichthyosis, but Bart (her husband) is unaffected and completely normal with respect to the allele responsible for this disorder. Both Bart and Jenny were Biology majors as undergraduates. Knowing a little about the pattern of X-linked recessive inheritance, Bart and Jenny were concerned when ultrasound revealed that they would be having a son. However, genetic testing performed on the baby shortly after birth revealed that their newborn son, Mark, did not…arrow_forward
- Neural Tube Defects (NTDs) are one of the most severe congenital malformations. A study was conducted to determine whether supplementation with folic acid or a mixture of seven other vitamins (A, D, B1, B2, B6, C, and nicotinamide) around the time of conception could prevent neural tube defects. A total of 1817 women at high risk of having a pregnancy with a neural tube defect (because of a previous affected pregnancy) were allocated at random to one of four groups: 1) folic acid; 2) other vitamins; 3) both; 4) neither. 1195 had a completed pregnancy; 27 of these had a known neural tube defect, 6 in the folic acid groups and 21 in the two other groups. This resulted in a risk ratio= 0.28. Based on the results of the study, which of the following is an appropriate conclusion? a)There is no difference in the effect of folic acid on NTDs b) None of these c) Folic acid increases risk of NTDs d) Folic acid is protective against NTDsarrow_forwardBACKGROUND: Sickle cell disease is caused by a change in the gene for hemoglobin, which is the oxygen-carrying protein in red blood cells. Individuals who are homozygous for the sickle cell trait often cannot endure exercise. Individuals who are heterozygous for the trait can have sickle cell attacks under extreme conditions. Normal individuals (genotype: Hbnorm Hbnorm ) have only normal hemoglobin. Homozygous sickle cell individuals (genotype: Hbsc Hbsc ) 'have only sickle cell hemoglobin. Heterozygous individuals (genotype: Hbnorm Hbsc ) have both normal and sickle cell hemoglobin. terry Smith collapsed while running a race for his track team. A doctor said he had a sickle cell attack. Genetic tests were run on several family members. The test results are shown below. An X indicates that form of hemoglobin in red blood cells. PROBLEM: How can you determine the genotypes of people in a family? Subject Normal Hemoglobin Sickle Cell Hemoglobin Jerry Jerry's brother Jerry's younger…arrow_forwardDiabetes Mellitus is a condition characterised by the inability to effectively transport glucose from the bloodstream into cells, often resulting in high blood glucose levels. This is either because a person's pancreas is not producing sufficient amounts of insulin, the hormone that facilitates glucose uptake, or because their cells don't respond normally to the insulin they produce. Type 1 Diabetes (approximately 10% of all Diabetes cases) is an autoimmune disease, thought to be triggered by the interaction of genetic and environmental factors. Type 2 Diabetes (85-90% of all cases), while having a genetic component, is largely associated with poor nutritional choices and lack of exercise. Figure 1. Australians diagnosed with diabetes by age group in 2007-08 (Australian Institute of Health and Welfare 2011) -Proportion (%) with dlabetes in each age group 18% 16% 14% 12% 10% 8% 6% 4% | 2% 0% 0-34 6£-s£ 40-44 45-49 50-54 55-59 60-64 Age group (years) 65-69 70-74 75-79 +08 160,000 140,000…arrow_forward