1. Describe the phenotype of individuals with achondroplasia, a common form of dwarfism.
Individuals with achondroplasia exhibit short stature, short limbs, a long torso relative to the limbs, a large head with a broad forehead, underdevelopment of the midface (depressed nose bridge), and hyperextensibility of the joints with the exception the elbow where movement is limited.
(http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800)

2. Achondroplasia is the result of a mutated gene.
a. What is the chromosomal location of this gene?
The chromosomal location of the gene is 4p16.3.
(http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800)

b. What protein does this gene code for? What is the normal function of that protein?
This gene codes for the fibroblast growth factor receptor-3 protein. The normal function of this protein is to regulate bone growth by slowing the production of chondrocytes.
(http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.256)

c.......

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Title: Achondroplasia
Approximate Word Count: 365
Approximate Pages: 2 (250 words per double-spaced page)

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