Genetics & Human Disease:
Searching the Medical Literature
Biology 313L - Genetics Laboratory
March 23-24, 2009
Assistant Professor, Science & Technology Librarian
1. Discuss online
resources (e.g. PubMed, OMIM) for information about genetics and human disease.
2. Introduce Entrez Gene. 3. Mention additional resources that may be useful
for completing lab datasheet.
Genetics, Development &
Cell Biology (GDCB) Resources Guide -
http://instr.iastate.libguides.com/gdcb - Most of the resources discussed
below are included on the guide.
- Available on the library
website -- Collections ---> e-resources by Subject
- Lists relevant books
(online & print) and article databases. Also includes links to recent
ISU publications related to genetics.
- Off-campus access to
library resources - click on the "Off-campus
login" tab for more information.
(Select PubMed ISU Affiliate from the "Indexes & Abstracts"
link. This link has the "Get it@ISU" feature enabled. You may also
access PubMed via the "Find Articles" tab on the GDCB Resources guide)
- PubMed: service of the NIH and
NLM. Freely available search interface for the MEDLINE database.
- Combine search terms
with connector words: "AND", "OR" or "NOT".
Must use upper-case letters. When searching for gene-related information,
can use gene symbol/abbreviation, protein name, etc.
- Utilize "Limits"
(e.g. Publication type, Language, Publication Date, etc.)
- "Send to Email"
- Other features: Books
(Genes & Disease, GeneReviews)
- Additional information:
III. OMIM: Online Mendelian
Inheritance in Man
- OMIM: Online Mendelian
Inheritance in Man (linked from PubMed, look at the black toolbar). Catalog
of review articles for human genes and genetic disorders maintained by Johns
- MIM Number Prefixes:
* - gene with a known sequence; # - before an entry number indicates that
it is a descriptive entry, usually of a phenotype, and does not represent
a unique locus; + - before an entry number indicates that the entry contains
the description of a gene of known sequence and a phenotype; % - before
an entry number indicates that the entry describes a confirmed mendelian
phenotype or phenotypic locus for which the underlying molecular basis
is not known. Example: presenilin 1 AND alzheimer disease
Gene (From NCBI homepage, click on "Genomic Biology" on the
left-hand sidebar, then choose "Gene")
- NCBIs database for gene-specific
information. Many species represented----not just human information.
- Can search by name of
disease, gene name. Can limit search by species. For example, cx26 [sym] AND
- Can easily find information
about chromosome, map location, number of amino acids in a gene's peptide,
function & location of the gene's peptide.
- Extensive linkages to
other NCBI databases (e.g. Entrez Nucleotide, Entrez Protein, OMIM, PubMed)
- Many links to resources
outside of the NCBI (e.g. HPRD: Human Protein Reference Database, KEGG: Kyoto
Encyclopedia of Genes and Genomes)
- Tips for answering
Question #3 on the datasheet (PDF): http://www.public.iastate.edu/~adinkelm/Using_Entrez_GENE.pdf
with easy-to-understand information about genetics and human disease
VI. Online Glossaries/Dictionaries
VII. For More Information
- E-Books - Both of the following books have articles about gene therapy.
Both e-books are available through the Library website, http://www.lib.iastate.edu/
(Do a "Title" search in the catalog or click on the "Find Books"
tab in the GDCB Resources guide.)
- Encyclopedia of Genetics,
Genomics, Proteomics & Bioinformatics.
- Encyclopedia of Life
VIII. Google Scholar
- Looking for the most
current information about genetic disease (or any scientific topic)? Use
PubMed, not Google Scholar! You will find "scholarly" references
in Google Scholar, but the information may not be the most up-to-date. MEDLINE
is generally updated each day, Tuesday-Saturday.
Last updated 03/23/2009
- Available at: http://www.public.iastate.edu/~adinkelm/homepage.html