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Germline mutation
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=== Cystic fibrosis === Cystic fibrosis is an [[Dominance (genetics)|autosomal recessive]] disorder that causes a variety of symptoms and complications, the most common of which is a thick mucous lining in lung [[Epithelium|epithelial]] tissue due to improper salt exchange, but can also affect the [[pancreas]], [[Gastrointestinal tract|intestines]], [[liver]], and [[kidney]]s.<ref name=":4">{{cite web|url=http://www.cysticfibrosis.ca/about-cf|title=Cystic Fibrosis Canada|website=www.cysticfibrosis.ca|access-date=2017-11-30}}</ref><ref>{{cite journal | vauthors = O'Sullivan BP, Freedman SD | title = Cystic fibrosis | journal = Lancet | volume = 373 | issue = 9678 | pages = 1891β904 | date = May 2009 | pmid = 19403164 | doi = 10.1016/S0140-6736(09)60327-5 | s2cid = 46011502 }}</ref> Many bodily processes can be affected due to the hereditary nature of this disease; if the disease is present in the DNA of both the sperm and the egg, then it will be present in essentially every cell and organ in the body; these mutations can occur initially in the germline cells, or be present in all parental cells.<ref name=":4" /> The most common mutation seen in this disease is ΞF508, which means a deletion of the amino acid at the 508 position.<ref>{{cite web|url=https://ghr.nlm.nih.gov/gene/CFTR#conditions|title=CFTR gene|last=Reference|first=Genetics Home|website=Genetics Home Reference|access-date=2017-11-30}}</ref> If both parents have a mutated [[Cystic fibrosis transmembrane conductance regulator|CFTR]] (cystic fibrosis transmembrane conductance regulator) protein, then their children have a 25% of inheriting the disease.<ref name=":4" /> If a child has one mutated copy of CFTR, they will not develop the disease, but will become a carrier of the disease.<ref name=":4" /> The mutation can be detected before birth through amniocentesis, or after birth via prenatal genetic screening.<ref name=":16">{{cite web |title=Prenatal Diagnosis |url=https://www.hopkinscf.org/what-is-cf/diagnosis/presentations/prenatal-diagnosis/ |website=Johns Hopkins Cystic Fibrosis Center |access-date=23 September 2018}}</ref>
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