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- 63. A student studying mutations found her amino acid chain was Met-Ile-Gly-Pro-Pro-Pro-Gln-Tyr-Val-Stop The second "Pro" that should not be there shows the mutation is a mutation. A. Frameshift C. Missense D. Silent B. Nonsense3. In studying normal and mutant forms of a particularhuman enzyme, a geneticist came across a particularly interesting mutant form of the enzyme. Thenormal enzyme is 227 amino acids long, but themutant form was 312 amino acids long. The extra85 amino acids occurred as a block in the middleof the normal sequence. The inserted amino acidsdo not correspond in any way to the normal proteinsequence. What are possible explanations forthis phenomenon? How would you distinguishamong them?2. Sickle-cell anemia is a genetic disorder caused by the abnormal gene for hemoglobin S. A single substitution oc- curs in which glutamic acid is substituted for valine in the sixth position of the hemoglobin molecule. This change reduces hemoglobin's ability to carry oxygen. a. Discuss the process by which mutation occurs in base substitution. b. Biologists used gel electrophoresis to initially identify the mutant gene. Explain how gel electrophoresis could be applied to the identification of the gene mutation. Discuss the use of restriction enzymes. c. Hemoglobin S is transmitted as a simple Mendelian allele. Describe the outcome if a female who does not carry the abnormal allele mates with a male homozygous for the disease. Include a Punnett square and pheno- typic and genotypic ratios.
- 36. Non-sense mutation results to the formation of a shorter protein than what should be synthesized. true or false84. Neurobiology of speech and language has been studied in a family in which half of the members have severe impairment in both speech and language. The mutation responsible for the phenotype was identified in the FOXP2 gene. In addition, this gene is found on a chromosome segment tightly linked to autism, a disorder in which language is impaired. How would you directly test the hypothesis that this gene is necessary for vocal communication in other mammals? a. Use molecular genetic techniques to disrupt (inactivate) the mouse Foxp2 gene and observe the effect on ultrasonic vocalizations in the knockout mice. b. Determine the DNA sequence of the FOXP2 gene in several species of mammals that communicate vocally and compare these sequences to the DNA sequence for the human gene to determine whether the gene is evolutionarily conserved. c. Compare neural expression patterns of the FOXP2 gene between species that communicate vocally and related species that do not communicate vocally to…3. A missense mutation results in the presence of a different amino acid than was encoded by the parental sequence. This type of mutation can have a drastic effect or no effect at all depending on the importance of the amino acid and the type of amino acid that replaces it. Some amino acids are structurally similar and may be able to act as viable substitutes for each other. For example, changing one acidic amino acid to another may not affect the final protein, but changing a polar amino acid to a nonpolar amino acid will likely disrupt the structure. Please explain what mutations occur in HBB gene of abnormal hemoglobin and their effect on the function of the protein.
- 48. Sickle cell anemia (SCA) is an inherited blood disorder resulting from abnormally shaped hemoglobin in red blood cells. Affected individuals often experience anemia and pain caused by blocked blood vessels. SCA is caused by a point mutation in the amino acid chain that results from glutamic acid being replaced by valine.What type of mutation causes sickle cell anemia? Select one: a. frameshift mutation b. substitution c. silent mutation d. deletion37.What is the answer of the question number 6 and 7?
- Group A 1. What are the fates of base substitution mutation? 2. Describe the effects of intron phase on alternative splicing with diagram. 3. How can you identify the start codon in the mRNA sequence? (refer to the last week's lecture) 4. Describe the consequences of frame shift mutation. 5. What type of mutation is sickle cell anemia? Explain the molecular basis of sickle cell anemia. 6. What is open reading frame? How frame shift mutation can be happened? Explain with example. 7. Two major types of mutations are gene mutation and chromosome mutation. Which mutation is more lethal and why? 8. If you want to multiply the number of a target gene, what process you will do? Explaín the process in detail. 9. Write the functions of UTR of MRNA.2.2. Describe what are missense mutations and its effects on structure and function using haemoglobin as an example6. The starting sequence of a gene changed from AUGTTCGACGTG, to AUGTTTTCGACGTG What type of mutation is this? To answer the question, please explain: I) what the mutation is? 2) what types of mutation do you know? 3) what are the possible outcomes of mutations? 14