Genetics+Proj+Notes+CH

=__Project Notes__=
 * Kat-Tay-Sachs
 * Inherited-causes nerve cells to deteriorate and eventually die
 * Malfunction of protein hexosaminidase (HEX A)
 * Lysosomes are the recycling plants of the cells
 * Activator subunit brings the GM2 molecule to the lysosome
 * Nerve cell is caused to swell when the GM gangiloside slides
 * HEX A encoded on chromosome 15
 * There are 90 or more mutations that cause tay-sachs (deletion)
 * Comes from one chromosome from each parent and both parents have to have the mutation for tay-sachs to develop (25% chance)
 * 50% chance of being carriers
 * Diagnosed with enymatic tests or genetic tests
 * Caroline-Polycystic Kidney Disease
 * PKD-cysts grow inside a person's kidneys, leading to kidney failure most often
 * The cysts interfere with proper kidney function
 * Inherited by one mutation from one parent because its dominant
 * 10% of the cases are just from spontaneous mutations
 * Can happen if you get one from each parent
 * Massey-Cystic Fibrosis
 * Mutation in chromosome 7-contains instructions for building a protein called CFTR
 * Keeps chloride from going into the cells
 * Missing protein in sweat glands forces the body to absorb ions and messes up the heart beat
 * Messes up digestion
 * Inherited through recessive combinations
 * Lung transplants are a common option to help disorder
 * Pat-Fragile X
 * caused by the mutation in the FMR1 gene on the X chromosome
 * some people are hyper active
 * can cause multiple physical problems
 * no cure but research is continues
 * medication treats symptoms
 * symptoms are more severe in guys
 * Harrison