Using the Gene Database to Identify Gene Mutations for Genetic Disorders

Part A: Collecting Data

Using the Gene Database

In this unit activity, you will use a national gene database to identify gene mutations that contribute to different genetic disorders. You will also use the data you gather to make a model showing the patterns of inheritance.

Part A: Collecting Data

Choose any two genetic disorders. Use the NIH gene database to collect information about the heredity patterns of these genetic disorders. You may choose disorders you learned about in the unit or explore other genetic disorders. Your teacher may also provide you with a list of genetic disorders to investigate.

Use the search bar at the top of the database to enter the name of the disorders. Be as specific as possible. You may search specific disorders such as cystic fibrosis and muscular dystrophy. You’ll be directed to a page with all the mutated genes identified for the particular disorder. The table that appears will provide the following information:

• Official name/Gene ID of the gene
• Description (Use the description for humans. Ensure that the description says human or Homo sapiens and doesn’t refer to other mammals listed in the database.)
• Location (Note the name of the chromosome on which the mutation appears. Use the diagram to determine if it’s a sex or a non-sex chromosome.)
• Aliases for the gene

Many heredity disorders affect multiple genes. You’ll examine up to three genes for each disorder. If you choose a disorder that involves fewer than three human genes in the database, evaluate the listed genes. To evaluate each gene, click the name of the gene in the table and review the summary. Sometimes you can identify the pattern of inheritance—whether the disease is dominant or recessive—using this summary.

Create two tables, one for each disease. For the role of the non-mutated gene column, list the general function of the gene. For example, if the summary states that “this gene encodes a member of the ATP-binding cassette (ABC) transporter” you can write in your column “important for the use of ATP.” If you aren’t familiar with a word in the summary, search the NIH website for a clear definition of the term.

You can use the table provided or use the Insert Table button to design your own table. Here is an example for one gene:

Search the NIH gene database for the term colorblindness. Use the results of the database search to explain how a father and mother who are not colorblind could have a son who is colorblind. Your model can be a pedigree chart, a Punnett square, or a diagram of chromosomes.

Why do you think scientists track the genes of other organisms such as rats or mice in the database? Do you think rat genes are important to human gene research?

In part A, you analyzed genes that contribute to two diseases. How can scientists use this information to develop new treatments for these diseases? Based on your findings, do you think that scientists will need to develop multiple treatments to control symptoms of these diseases? Explain your reasoning.

Do either of your diseases in part A have the same pattern of inheritance as the model of the colorblindness mutation you made? How do you know?

Do you think the genetic disorders you identified in part A or B would appear in a person’s DNA fingerprinting profile? Explain your reasoning.

Genetic testing is becoming more common, even for people who show no outward symptoms of a disease. Do you think it’s beneficial to know whether you carry a mutated gene? Are there are any negative consequences?

The gene database you used is for health-care professionals. Would you support a similar gene database for consumers? Explain your reasoning.

If a consumer version of the gene database was created, what additional features would it need to be user-friendly?