preview

Specific Genetic Disorder Paper

Decent Essays

Research Paper: A Few Specific Genetic Disorders From Cystic Fibrosis to Down’s Syndrome and Sickle Cell Anemia, there are tens of thousands of genetic disorders, with many more to be discovered. The fascinating thing about genetic disorders is that when we were born it’s a gamble whether or not we would come into this world with a genetic disorder. Although genetic disorders are quite rare and we take being born without one as granted, there are many out there that live with these disorders everyday. My research paper will focus on the specificalities of a few genetic disorders, the disorders presented in my paper are Marfan Syndrome, Hutchinson-Gilford Progeria, Cystic Fibrosis, and Sickle Cell Anemia. My paper will encompass important specifics …show more content…

Genetic disorders can also be hereditary and can be passed down from generation to generation. There are two types of genetic disorders, single gene and multigene. Single gene focuses specifically on one gene while multigene disorders affect multiple genes and there are more of them. Moreover, single gene disorders are far more numerous than generally assumed, and as a group, they are certainly not rare (Ropers, 2010). As stated by Hans-Hilger Roper, single gene disorders are more rare than many might think. The chances of being born with a certain genetic disorder could possibly range from 1 in 500 to 1 in 10 million. While these numbers for a single genetic disorder might not be significantly high, the tens of thousands diseases bundled together adds …show more content…

Essentially, cystic fibrosis causes a lot of sticky mucus buildup in many organs, including the pancreas, lungs, and other organs. One interesting fact about Cystic Fibrosis has to do with its epidemiology, interestingly enough, the distribution and prevalence of cystic fibrosis does depend on race; white people have a higher chance of being born with Cystic fibrosis, this is believed to be because the emergence of cystic fibrosis began in the stone age in Europe (Daniel, Emanuela, Genel & Lucia, 2015). Since cystic fibrosis is a recessive autosomal disease, a person affected inherits two mutated genes from each parent as opposed to a single gene. Cystic Fibrosis is caused specifically in the “CFTR (cystic fibrosis transmembrane conductance regulator) gene” , within this gene the most common mutation is the deletion of phenylalanine at codon 508, this is the most common mutation within the 1600 known possible mutations for cystic fibrosis (Alton, Bush, & Davies, 2007). The ideal path to diagnose cystic fibrosis is through measuring sweat electrolyte levels, doctors measure the sweat levels and then check to see if the levels are abnormally high, as with Cystic fibrosis patients there is a high concentration of chloride and sodium (Alton, Bush, & Davies, 2007). After diagnosis, the main

Get Access