What is the function of the normal (not mutated) gene?

Introduction

There is a tremendous amount of important genetic information available online, in fact, some information is really available only online. However, the Genbank

and OMIM scientific databases are very technical and are too difficult for most people to use. These are typically databases that a scientist would access for large amounts of detail that a general audience might not need. A potential solution to this would be entries written for a general audience in the open source Wikipedia

encyclopedia project.

I would like you to to put your genetics knowledge to some use by researching a human genetic disease using Genbank

, OMIM

and other specialized databases, and then writing a report for the Wikipedia

that summarizes the key information about the gene.

Your writing assignment should include the following discussions:

1. What is the function of the normal (not mutated) gene?

2. Discuss the mutations responsible for the most common alleles, at both the DNA level and the protein level (point mutations, insertions, missense, frameshift, etc.).

**Update, please note, if you pick a disorder that has a chromosome deletion, you need to list every gene that is lost and discuss known mutations for those genes**

3. Whether the mutant alleles (usually a disease causing allele) are dominant or recessive, the consequences of inheriting the mutant allele (what are the symptoms, how is the disease treated, what is the prognosis for an afflicted individual, etc.), the frequency of the mutant allele in the population.

4. Since genetic diseases are inherited, a family wanting to have a child could consult with a medical geneticist before getting pregnant especially if there is a known family history. Why might genetic counseling be useful for such parents? Do