Lecture 8 Recombinant DNA technology IV

Lecture 8 Recombinant DNA technology IV - The final version...

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The final version of the Biology 142 tutorial sessions are available on Blackboard and are found below: Attend any and as many as you like!
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pedigree of a large family
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mode of inheritance?
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Biol142 Foundations in Modern Biology II Cellular Biology and Genetics Lecture 8 – Friday, February 3 rd , 2012 Recombinant DNA technology IV: The search for the Huntington’s disease gene. Reading: Freeman, Emory 2 nd Ed. Chapter 8 (pages 348-351)
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Learning objectives At the end of this lecture, you will be able to: 1) Describe the strategy of utilizing association studies to identify genes responsible for disease. 2) Describe the two genetic markers, s ingle n ucleotide p olymorphism (SNP) and r estriction f ragment l ength p olymorphism (RFLP). 3) Use a Southern blot to identify the “C-type” RFLP fragment linked with Huntington’s disease. 4) Explain how the mutant Huntingtin protein leads to disease.
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1. Huntington’s disease is a rare but devastating neurodegenerative disorder that is eventually fatal. An analysis of pedigrees from affected families suggested that the trait results from a single, autosomal dominant allele. This means the offspring of a individual with Huntington's disease has a 50 percent chance of receiving the disease allele and developing the illness. The goal : To identify the gene or genes involved in the development of Huntington’s disease.
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To locate the gene(s) associated with a particular phenotype, such as a disease, researchers traditionally started with a genetic map (or linkage map ). ! More recently, biologists have begun using a
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Lecture 8 Recombinant DNA technology IV - The final version...

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