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1-Lab9rev-no answers - Laboratory 9 Introduction to the...

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Laboratory 9 – Introduction to the National Center for Biotechnology Information NCBI is the national repository of DNA sequence information. Similar databases exist in Europe and in Japan and all are linked together. NCBI also serves as a literature resource (PubMed) for predominantly biochemical literature and provides tutorials on a variety of topics related to biotechnology. http://www.ncbi.nlm.nih.gov/About/glance/ourmission.html . It is the repository for the human genome data sets. EXERCISE 1 – HOW DO I FIND INFORMATION ABOUT GENES OR TRAITS OF INTEREST? You may wish to find out about a particular gene or trait and there are a number of resources available from NCBI that will help you with this task. In this exercise, we’ll use Leber Hereditary Optic Neuropathy, a human disease with analogous conditions in a variety of animals, as an example to explore available resources. Leber Hereditary Optic Neuropathy (LHON) results from a mutation that causes degeneration of retinal ganglion cells and loss of visual acuity. You will examine: - What genes are involved in this syndrome and what is the role of these genes. - What kinds of mutations lead to this syndrome. - How the mutation inherited. The NCBI home page is the starting page for your exploration. This page provides menus and search engines for NCBI databases and tutorials. Literature concerning a specific disease or condition can be found at OMIM (Online Mendelian Inheritance in Man) and in PubMed. You can search either from the search engine at the top of the NCBI home page by using the drop down menu to select your database of interest. A second National Institutes of Health website is the Genetics Home Reference web site where you can find information on many genetic conditions. http://ghr.nlm.nih.gov/gene=mtnd1 Go to this site and use information found there to answer the following questions. Use this site and NCBI PubMed to search for information. For PubMed, go to http://www.ncbi.nlm.nih.gov/ At the top of the page, there is a search box. Under "search," select PubMed. In the second box, type in "Leber hereditary optic neuropathy." as shown below. A link to PubMed is also available at http://ghr.nlm.nih.gov/gene=mtnd1 1
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Use the above sites to answer the following questions. Questions can be answered on the answer sheet. 1. Where is the gene for LHON located? 2. Is there more than one mutation causing LHON? 3. What do genes associated with LHON code for and what is the normal function of the encoded genes? 4. Is penetrance of LHON affected by environmental factors? Go again to the NCBI home page http://www.ncbi.nlm.nih.gov/ Search again but this time select "nucleotide" as the database. You will find several complete human mitochondrial sequences. Take a look at these sequences. The position of various genes is given together with the protein translation for the genes.
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