13 Jun BZ101 Humans and Other Animals
Question
BZ101 Humans and Other Animals
Assignment: Explore OMIM
Introduction
Online Mendelian Inheritance in Man (OMIM) is the National Center for Biotechnology
Information (NCBI) database of genetically inherited diseases and disorders. Every gene that
has been implicated in human disease is in this database.
In asking you to use OMIM to learn about one genetically based disease, this assignment will both get
you familiar with this powerful database and ask you to apply what you have learned about genetics.
Assignment
Go to OMIM (http://omim.org)
Search OMIM for 219700
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List the name of the disease, inheritance patterns and a clinical description of the
disease. See Clinical Synopsis
Answer the following questions:
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Meconium is the material found in the intestines of a newborn; the meconium is
normally evacuated from the digestive system soon after birth. What is meconium
ileus, and why is it a frequent complication of cystic fibrosis? See Clinical Features
Why are females with cystic fibrosis usually infertile? Why are males with cystic fibrosis
usually infertile? See Clinical Features
Describe an ancient technique to diagnose cystic fibrosis, and explain the basis of the
technique. See Pathogenesis
How does the drug Kalydeco work in cystic fibrosis patients? Why is the drug a
treatment option for only a small percentage of cf patients? See Clinical Management
and the Ledford citation
Submission
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Submit your answers by attaching a .doc or .docx file to the assignment dropbox in Canvas.
Check the Schedule for the due date.
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