CAS PS 241 Lecture Notes - Lecture 5: Turner Syndrome, Cardiology, Y Chromosome
21 Sep 2016
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Document Summary
Pku is an example of a single gene recessive disorder. The recessive gene leads to the absence of an enzyme that breaks down proteins found in milk, and as a result acid builds up that can cause cognitive impairment in the brain if left untreated. Pku, if detected after birth, can be treated by placing the child on a special diet free of the protein that causes acid buildup. This makes pku a great example of a genotype that does not guarantee a problematic phenotype (genotype does not equal destiny) It is the exception to most genetic diseases being recessive because symptoms don"t start until 30-50, so many carriers have already had offspring and passed it on by that point. There is no cure, central nervous system breaks down in stages. At this point we can only prolong functioning with known interventions/medications. Parent does not even have to be a carrier, because the gene originates as a mutation during meiosis.
