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- Sickle cell anemia is an autosomal recessive genetic disorder. Because individuals affected bysickle cell anemia have defective hemoglobin proteins, their blood cannot transport oxygenproperly. There appears to be a relationship between the incidence of malaria and sickle cellanemia. Individuals with sickle cell anemia and carriers of the sickle cell allele have someresistance to malaria. Malaria is caused by the parasite Plasmodium and is transmitted among humans by mosquitoes. If scientists are successful in reducing significantly or eliminating malaria, the best predictionfor what will happen to the allele for sickle cell anemia in the population is that it willa. not be affected by the elimination of malariab. increase as its selective advantage is increasedc. be reduced as its selective advantage is decreasedd. disappear quickly as its selective advantage is increasedSickle cell anemia is a genetic disease most common in those of African ancestry that results from the mutation of a single basepair. This mutation results in a change to the hemoglobin protein. In this experiment, “S” will represent the normal allele and “s” thesickle allele. They are codominant alleles. Therefore, SS is normal, Ss is not fatal but mildly symptomatic, and ss is debilitating,painful, and often fatal. After hundreds or even thousands of generations, both alleles are still common in those of African ancestry. How would you explain this?Sickle cell anemia is an autosomal recessive genetic disorder. Because individuals affected bysickle cell anemia have defective hemoglobin proteins, their blood cannot transport oxygenproperly. There appears to be a relationship between the incidence of malaria and sickle cellanemia. Individuals with sickle cell anemia and carriers of the sickle cell allele have someresistance to malaria. Malaria is caused by the parasite Plasmodium and is transmitted amonghumans by mosquitoes.4. If scientists are successful in reducing significantly or eliminating malaria, the best predictionfor what will happen to the allele for sickle cell anemia in the population is that it willa. not be affected by the elimination of malariab. increase as its selective advantage is increasedc. be reduced as its selective advantage is decreasedd. disappear quickly as its selective advantage is increased
- We often speak of diseases such as phenylketonuria (PKU) andachondroplasia as having a genetic basis. Explain whether the followingstatements are accurate with regard to the genetic basis ofany human disease (not just PKU and achondroplasia).A. An individual must inherit two copies of a mutant allele to havedisease symptoms.B. A genetic predisposition means that an individual has inheritedone or more alleles that make it more likely that she or he willdevelop disease symptoms than other individuals in a populationwill.C. A genetic predisposition to develop a disease may be passedfrom parents to offspring.D. The genetic basis for a disease is always more important thanthe environment.The equation p2+ 2pq + q2= 1 representing theHardy-Weinberg proportions examines genes withonly two alleles in a population.a. Derive a similar equation describing the equilibrium proportions of genotypes for a gene withthree alleles. [Hint: Remember that the HardyWeinberg equation can be written as the binomialexpansion (p + q)2.]b. A single gene with three alleles (IA, IB, and i) isresponsible for the ABO blood groups. Individualswith blood type A can be either IA IAor IA i;those with blood type B can be either IB IBor IB i;people with AB blood are IA IB, and type O individuals are ii. Among Armenians, the frequency of IAis0.360, the frequency of IBis 0.104, and the frequencyof i is 0.536. Calculate the frequencies of individuals in this population with the four possible bloodtypes, assuming Hardy-Weinberg equilibrium.In Problems 15–17, you will see that because matingbetween individuals within populations at Hardy-Weinbergequilibrium is random, it is possible to predict…In a large, randomly mating population, the frequency of the allele (s)for sickle-cell hemoglobin is 0.028. The results of studies have shownthat people with the following genotypes at the beta-chain locus producethe following average numbers of offspring:Genotype Average numberof offspring producedSS 5Ss 6ss 0a. What will the frequency of the sickle-cell allele (s) be in the nextgeneration?b. What will the frequency of the sickle-cell allele be at equilibrium?
- 151 Phenylketonuria (PKU) is a disorder caused by a recessive allele. Two carrier individuals have progeny. Answer the following questions in order and show solutions whenever relevant. Indicate the gene notation. Derive the expected genotypic and phenotypic ratios.Consider the case of a hypothetical genetic disease called WhySciEleven (WSE), an inherited disease that results to the inability to complete production of an amino acid “moduleactivity” that results in brain damage if untreated. WSE is due to a recessive allele. Given one WSE occurrence per 10,000 births. Which term in the Hardy-Weinberg equation corresponds to the frequency of individuals who have no alleles for the disease WSE? a. p b. 2pq c. p2 d. q2A 30 - year - old woman was undergoing therapy for b-thalassemia,a recessive trait caused by absence of or reduced synthesis ofthe hemoglobin b chain, a subunit of the oxygen-carrying moleculein red blood cells. In this condition, red blood cells are rapidlydestroyed, freeing a large amount of iron, which is deposited in tissuesand organs. The blood transfusions the patient had received every twoor three weeks since the age of 7 to stave off anemia were furtheraggravating iron buildup. Her major organs were showing damage, andshe was in danger of death from cardiac disease. Her physician suggestedthat she consider undergoing a hematopoietic (bone marrow)stem cell transplant (HSCT). Since these stem cells give rise to redblood cells, such a transplant could potentially restore her health. Whilethis might seem like an easy decision, it is not. Advanced cases havea high risk (almost 30 percent) for transplantation-related death. At thispoint, the woman is faced with a difficult and…
- A 30 - year - old woman was undergoing therapy for b-thalassemia,a recessive trait caused by absence of or reduced synthesis ofthe hemoglobin b chain, a subunit of the oxygen-carrying moleculein red blood cells. In this condition, red blood cells are rapidlydestroyed, freeing a large amount of iron, which is deposited in tissuesand organs. The blood transfusions the patient had received every twoor three weeks since the age of 7 to stave off anemia were furtheraggravating iron buildup. Her major organs were showing damage, andshe was in danger of death from cardiac disease. Her physician suggestedthat she consider undergoing a hematopoietic (bone marrow)stem cell transplant (HSCT). Since these stem cells give rise to redblood cells, such a transplant could potentially restore her health. Whilethis might seem like an easy decision, it is not. Advanced cases havea high risk (almost 30 percent) for transplantation-related death. At thispoint, the woman is faced with a difficult and…A human gene called the β-globin gene encodes a polypeptidethat functions as a subunit of the protein known as hemoglobin.Hemoglobin is found within red blood cells; it carries oxygen. Inhuman populations, the β-globin gene can be found as the common allele called the HbAallele, and it can also be found as theHbSallele. Individuals who have two copies of the HbSallele havethe disease called sickle cell disease. Are the following examplesdescriptions of genetics at the molecular, cellular, organism, orpopulation level?A. The HbSallele encodes a polypeptide that functions slightlydifferently from the polypeptide encoded by the HbAallele.B. If an individual has two copies of the HbSallele, that person’sred blood cells take on a sickle shape.C. Individuals who have two copies of the HbAallele do nothave sickle cell disease, but they are not resistant to malaria.People who have one HbAallele and one HbSallele do not havesickle cell disease, and they are resistant to malaria. People whohave…With two pairs of genes involved (P/p and Z/z), atestcross (ppzz) with an organism of unknown genotypeindicated that the gametes produced were in the followingproportionsPZ, 42.4%; Pz, 6.9%; pZ, 7.1%; pz, 43.6%Draw all possible conclusions from these data.