Achondroplasia

Achondroplasia Achondroplasia is a genetic condition that results in a abruptly altitude and is the most common military campaign of picayune stature with disproportionately. People with disproportionate short stature atomic number 18 often refer to themselves as dwarfs, little people, or short-stature persons. The reasonable height is about 4 feet. Other characteristics include short arms and legs compared to the trunk, bowed legs, a large prominent supercilium and a sm only mid-face. Achondroplasia does not discriminate, it occurs in all races and with equal absolute frequency in both males and females. The chances of its occurrence ranges from 1 in every(prenominal) 15,000 to 1 in every 40,00 go away births. Its estimated that there are about 10,000 individuals with osteosclerosis congenita in the United States. Because of the diaphanous phenotype, achondroplasia has been documented throughout history. old-fashioned Egyptians often apply individuals with ac hondroplasia in their art work, several(prenominal) dating back to 4500 BCE. collect to the hot, dry climate and inseparable and artificial mummification, Egypt is a major source of archeological culture on achondroplasia. The painter Diego Velazques did a series of paintings featuring individuals with achnodroplasia in 1600s.

Those with achondroplasia has had a hard term in public in the 1800s to the mid 1900s because they were often featured in circus shows. They came to be cognize as freaks of nature or were midgets. Achondroplasia is the result of a missense mutation in the fibroblast ontogenesis fact or receptor 3 (FGFR3) located on the P arm o! f the fourth chromosome in humans. The disease was genetically mapped to this chromosome in 1994 by Dr. John Wasmuth and his colleagues. The big majority of patients with this disease, about 97%, have an adenine where a guanine base should be at position 1138 on exon 10 in the cDNA sequence. This results in the FGFR3 protein exposition of the gene containing an arginine for a genus Glycine amino acid at position 380. The other penny-pinching 3% of mutations at this...If you motive to get a bountiful essay, order it on our website: OrderCustomPaper.com

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