Achondroplasia Essay

Topics: Genetics, Mutation, Genetic disorder Pages: 2 (460 words) Published: October 3, 2011
Genetic diseases are a big cause in an abnormal birth. There are many genetic diseases by at which are all caused by a mutation in a person’s gene or group of genes called chromosomes. These mutations can occur randomly, or because of an environmental exposure such as a cigarette smoke. At times, genetic disorders are inherited because of past generations having a history of genetic disorders. The mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease. A genetic disorder that can be passed down, if past generations have a history of it, is Achondroplasia.

Achondroplasia is a disorder of bone growth, most common in the long bones of the arms and legs. All people with this have short stature, or dwarfism. An average adult male with Achondroplasia tends to grow up to 4’ 4” (131 centimeters) while the average height for adult females is 4’ 1’ (124 centimeters). It occurs in one in every 15,000 to one in 40,000 live births. Symptoms of Achondroplasia are: short arms and legs, an enlarged head with prominent forehead, and short fingers while some health problems may include breathing problems, obesity, and recurrent ear infections. It can also cause back pain in elders which can cause problems with walking. All of this is an effect of the FGFR3 gene.

Individuals with Achondroplasia, were cause by a mutation in the FGFR3 (fibroblast growth factor receptor 3) gene. It is located on the short arm of chromosome 4. The FGFR3 provides instructions for the making of a protein called fibroblast growth factor receptor 3, which play a role in regulation of cell growth and division, formation of blood vessels, and wound healing but most importantly, this protein is also involved in the development and maintenance of bone and brain tissues. There are two specific mutations in the FGFR3 gene that are responsible for almost all cases of Achondroplasia. This gene can be inherited in an autosomal dominant pattern....
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