Styles 2) Suppose you are a genetics researcher. You are working with DNA samples from two...
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Styles 2) Suppose you are a genetics researcher. You are working with DNA samples from two brothers. Liam has muscular dystrophy (MD), a disorder caused by mutations in the gene for dystrophin protein, but his brother Elijah is not affected. Liam and Elijah's dystrophin gene has been sequenced, and you have identified the 5 differences indicated below (with neighboring nucleotides included for reference). Your task is to predict which of the five mutations in Liam's DNA is most likely to cause MD. ಯ O D DO X chromosome Dystrophin gene (79 exons encoding 3500 amino acids) POEMESEM Change 1 2 3 Change #2 Change #3 4 5 Change #5 Elijah Liam's amino acid Region Promoter A Exon 19 Exon 52 Intron Exon 53 a) Looking only at the Region of the changes (Promoter, Exon, or Intron)-in which region would a mutation be least likely to cause a disease? (Hint: Which region is essentially discarded, unused?) Explain briefly. CAA UCU C GAU b) Mutations in the promoter region of a gene can sometimes cause disease, but not by changing the amino acid sequence of a protein. The promotor's role occurs during what process of the central dogma - Replication, Transcription, or Translation? In that step, what biological material is produced? Liam G UAA UCA A GAG The DNA differences in Changes 2, 3 and 5 are in protein-encoding region of the gene. Use the genetic code chart provided previously to complete the table below: i) Use the chart on the next page to identify the original amino acid coded for at that location (in Elijah). ii) Use the chart on the next page to identify the amino acid produced by the altered gene (in Liam). iii) What is the name given to of this type of mutation? Your options are Missense, Sense, and Nonsense -- see textbook section 11-5-as well as "Silent" (no change in amino acid). Elijah's amino acid Type of Mutation d) Based on your answers above, which nucleotide change is the most likely cause of Liam's disease? (i.e., which of these mutations has the most severe outcome?) Explain briefly. Styles 2) Suppose you are a genetics researcher. You are working with DNA samples from two brothers. Liam has muscular dystrophy (MD), a disorder caused by mutations in the gene for dystrophin protein, but his brother Elijah is not affected. Liam and Elijah's dystrophin gene has been sequenced, and you have identified the 5 differences indicated below (with neighboring nucleotides included for reference). Your task is to predict which of the five mutations in Liam's DNA is most likely to cause MD. ಯ O D DO X chromosome Dystrophin gene (79 exons encoding 3500 amino acids) POEMESEM Change 1 2 3 Change #2 Change #3 4 5 Change #5 Elijah Liam's amino acid Region Promoter A Exon 19 Exon 52 Intron Exon 53 a) Looking only at the Region of the changes (Promoter, Exon, or Intron)-in which region would a mutation be least likely to cause a disease? (Hint: Which region is essentially discarded, unused?) Explain briefly. CAA UCU C GAU b) Mutations in the promoter region of a gene can sometimes cause disease, but not by changing the amino acid sequence of a protein. The promotor's role occurs during what process of the central dogma - Replication, Transcription, or Translation? In that step, what biological material is produced? Liam G UAA UCA A GAG The DNA differences in Changes 2, 3 and 5 are in protein-encoding region of the gene. Use the genetic code chart provided previously to complete the table below: i) Use the chart on the next page to identify the original amino acid coded for at that location (in Elijah). ii) Use the chart on the next page to identify the amino acid produced by the altered gene (in Liam). iii) What is the name given to of this type of mutation? Your options are Missense, Sense, and Nonsense -- see textbook section 11-5-as well as "Silent" (no change in amino acid). Elijah's amino acid Type of Mutation d) Based on your answers above, which nucleotide change is the most likely cause of Liam's disease? (i.e., which of these mutations has the most severe outcome?) Explain briefly.
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