Part A: Collecting Data Question 1
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

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human chromosomes in pairs

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:

Gene Name Chromosome Sex Chromosome (Yes or No) Role of
Non-mutated Gene Effect Mutated Gene Has on Body
Gene 1 CTFR (ID: 1080) Chromosome 7 No important for ATP use linked to autosomal recessive disease, cystic fibrosis