Achondroplasia

Achondroplasia Achondroplasia is a genetic condition that results in a abruptly superlative and is the most common suffice 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 solo mid-face. Achondroplasia does not discriminate, it occurs in all races and with equal oftenness in both males and females. The chances of its occurrence ranges from 1 in either 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 limpid phenotype, achondroplasia has been documented throughout history. old-fashioned Egyptians often utilise individuals with achondroplasia in their art wor k, several(prenominal) dating back to 4500 BCE. collectible to the hot, dry climate and inseparable and artificial mummification, Egypt is a study 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 beat in public in the 1800s to the mid 1900s because they were often featured in circus shows. They came to be know as freaks of nature or were midgets. Achondroplasia is the result of a missense mutation in the fibroblast ontogenesis factor receptor 3 (FGFR3) located on the P arm of the fourth chromosome in humans. The disease was genetically mapped to this chromosome in 1994 by Dr. John Wasmuth and his colleagues. The wide 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 transmutation of the gene co ntaining an arginine for a genus Glycine ami! no acid at position 380. The other penny-pinching 3% of mutations at this...If you postulate to get a bountiful essay, order it on our website: OrderCustomPaper.com

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