Bio82 Section Week 2 2017 Key.docx

Bio82 Section Week 2 2017 Key.docx - Week 2 Section How...

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Week 2 Section: How information in DNA encodes a protein and how variation in DNA influences protein function The goal of this section is to explain the mechanism by which a genotype (at the DNA level) is linked to a phenotype of an organism. To achieve this goal, in this section, you will: Describe how information in the form of the sequence of DNA bases of a gene is converted in the form of the amino acids that make up a protein. Using the human disease Cystic Fibrosis as a case study, you will explore how different alleles of this gene affect the structure and function of the protein produced, and therefore, the phenotype expressed. Follow the segregation of alleles associated with disease phenotypes in a pedigree and infer dominance relationships between alleles. The molecular basis for the function of many human genes is still not known. We will focus on one of the best characterized human genes, CFTR. It is an example where the relationship between several molecular variants (alleles) of this gene and function in the cell and body are well known. Much of what we know about how this human gene functions comes from experiments with model organisms like mice which also have the CFTR gene. Week 2 Section Activity: Adapted from Scientific Am. Article A Breath of Fresh Air , posted on Canvas Cystic Fibrosis is a recessive genetic disease that causes accumulation of thick mucus which interferes with lung function and ability to digest food. It is due to a mutation in a gene called CFTR which stands for C ystic F ibrosis T ransmembrane Conductance R egulator. The disease is more common in Caucasians, affecting an estimated 1 in 3,300 live-born infants. In non-affected individuals, the CFTR protein encodes a 1,480 amino acids long protein which is folded into a structure that is embedded in the plasma membrane of cells as shown in the diagram below. The job of the the CFTR protein is to pump chloride ions outside the cell, so that water can follow. As water leaves the cell, the flow of water is able to thin and move the mucus coating the surfaces of lung airways, keeping the airways open and functioning normally. In this activity, you will analyze DNA sequence of the coding region of the CFTR gene in several different patients with Cystic Fibrosis to see how the 2 alleles each patient carries differ from that in non-affected individuals. You will then relate these changes in 1 1
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Week 2 Section: How information in DNA encodes a protein and how variation in DNA influences protein function DNA with the phenotype of the individual and explore why these changes result in symptoms. Finally, you will apply scientific advances in targeting of molecular defects in cystic fibrosis patients to explore what treatments make sense for these patients based on the sequence variant/s they possess.
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  • Winter '18
  • DNA, CFTR

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