CHEN 1000 Biotech Lecture 12 Notes

CHEN 1000 Biotech Lecture 12 Notes - Genetic Diseases...

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1 Genetic Diseases Many diseases that are gene-based. In some cases, the disease is due to a single defective gene. Single-gene human disorders: ADA deficiency (boy in the bubble) hypercholesteroemia (leads to coronary artery disease) hemophilia phenylketonuria (leads to brain damage in newborns) emphysema cystic fibrosis hyperammonemia (death or brain damage in newborns) muscular dystrophy sickle-cell disease dwarfism How Can Biotechnology Help? Detection: If the defective gene is known and its sequence is determined, a DNA probe can be created to detect the presence of the gene and, therefore, predict the occurrence of the disease. Treatment: Recombinant cells can be prepared using a corrected gene and re-introduced into a patient. This is called gene therapy . Detection of Genetic Disease A certain genetic disease is due to a mutation in a single gene and the sequence of that normal gene is known. Some members of a particular family (that has a high incidence of this disease) has a specific mutation in this gene. AAGCTGGCTTACATTGCCT TTCGACCGAATGTAACGGA AAGCT TC CTTACATTGCCT TTCGA AG GAATGTAACGGA normal gene fragment defective gene fragment Which of the following DNA probes would be good to use to screen for the presence of this disease? A: B: C: CGACCGA GCTGGCT CGAAGGA A Baby Bred To Avoid Alzheimer’s By Jamie Talan, Newsday (February 27, 2002) The child's mother . .. had tested positive for the rare genetic mutation, which leads to onset of symptoms in the 40s or 50s and death within 10 years. Her sister, father, grandfather and great- grandmother had early- onset Alzheimer's… Her eggs were examined, and those free of the mutation were identified and selected. She then conceived through in vitro fertilization. Pre-Implantation Genetic Diagnosis When should such a procedure be performed? Human Genome Project In 1990, the US started a project to map and sequence the entire human genome. It was expected to take 15 years but was finished in 2000, sooner than expected. This means that the locations and DNA sequences of all genes are now determined, although the functions of all the genes are certainly not known. The next step is to understand the functions of all the genes and to study the variations in the gene sequences (polymorphism) from person to person.
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This note was uploaded on 05/01/2008 for the course CHEN 1000 taught by Professor Degrazia,j during the Spring '04 term at Colorado.

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CHEN 1000 Biotech Lecture 12 Notes - Genetic Diseases...

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