Achondroplasia Genetic Disorder
Genetic Basis
Achondroplasia is a genetic disorder in that cartilage is not able to form into bone during development.
There is a genetic mutation that happens in Chromosome 4.
The mutation that happens is in the FGFR3 gene, which codes for the development of the protein Fibroblast Growth Factor Receptor 3. This protein aids in developing bone tissue and in this mutation the protein becomes overly active (Rosseau et al. 1994).
There are two 2 mutations in the FGFR3 Gene that can happen (Pagon et al.1993-2015).
In both types of mutations, at nucleotide 1138, the amino acid Glycine is replaced with a different amino acid (Pagon et al.1993-2015).
The most common mutation that happens in 99% of people with Achondroplasia is that Glycine, which
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