The Online Mendelian Inheritancein Man (OMIM) databaseis a catalog of human genesand human disorders that are inheritedin a Mendelian manner. Genetic disordersthat arise from major chromosomalaberrations, such as monosomyor trisomy(the loss of a chromosome orthe presence of a superfluous chromosome,respectively), are not included.The OMIM database, updated daily, is aversion of the book Mendelian Inheritancein Man, conceived and edited by Dr. VictorMcKusick of Johns Hopkins University,until he passed in 2008.The OMIM entries provide links to awealth of information, including DNAand protein sequences, chromosomalmaps, disease descriptions, and relevantscientific publications. In this exercise,you will explore OMIM to answer questionsabout the recessive human diseasesickle-cell anemia and other Mendelianinherited disorders.Exercise I – Sickle-Cell AnemiaIn this chapter, you were introduced torecessive and dominant human traits.You will now discover more about sicklecellanemia as an autosomal recessivedisease by exploring the OMIMdatabase.1. To begin the search, access the OMIMsite at: www.omim.org.2. In the “Search” box, type “sickle-cellanemia” and click on the “Search”button to perform the search.3. Click on the link for the entry #603903.4. Review the text that appears to learnabout sickle-cell anemia. Examine thelist of subject headings in the left-handcolumn and explore these links for moreinformation about sickle-cell anemia.5. Select one or two references at thebottom of the page and follow themto their abstracts in PubMed. Using the information in this entry, answer the following question. Question: What are the major symptoms of this disorder?
The Online
in Man (OMIM) database
is a catalog of human genes
and human disorders that are inherited
in a Mendelian manner. Genetic disorders
that arise from major chromosomal
aberrations, such as monosomy
or trisomy
(the loss of a chromosome or
the presence of a superfluous chromosome,
respectively), are not included.
The OMIM database, updated daily, is a
version of the book Mendelian Inheritance
in Man, conceived and edited by Dr. Victor
McKusick of Johns Hopkins University,
until he passed in 2008.
The OMIM entries provide links to a
wealth of information, including DNA
and protein sequences, chromosomal
maps, disease descriptions, and relevant
scientific publications. In this exercise,
you will explore OMIM to answer questions
about the recessive human disease
sickle-cell anemia and other Mendelian
inherited disorders.
Exercise I – Sickle-Cell Anemia
In this chapter, you were introduced to
recessive and dominant human traits.
You will now discover more about sicklecell
anemia as an autosomal recessive
disease by exploring the OMIM
database.
1. To begin the search, access the OMIM
site at: www.omim.org.
2. In the “Search” box, type “sickle-cell
anemia” and click on the “Search”
button to perform the search.
3. Click on the link for the entry #603903.
4. Review the text that appears to learn
about sickle-cell anemia. Examine the
list of subject headings in the left-hand
column and explore these links for more
information about sickle-cell anemia.
5. Select one or two references at the
bottom of the page and follow them
to their abstracts in PubMed.
Using the information in this entry, answer the following question.
Question: What are the major symptoms of this disorder?
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