Achondroplasia

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Title: Achondroplasia

Essay Details:

Subject: Science

Author: Joseph M

Date: September 4, 2014

Level: University

Grade: A

Length: 2 / 392

Essay text:

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. What is the most common mutation? The most common mutation of the FGFR3 gene is a glycine to arginine change located in, at nucleotide 1138 of cDNA...

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