Genetics+Notes+PK

Genetics Disease Notes by Patricia Kelley

Polycystic Kidney Disease - PKD - when cysts develop in the kidneys - leads to kidney failure - gene mutations: PKD1, PKD2 - u can be functional with one mutation

Marfan Syndrome - cardiovascular system is weak / smaller aorta - symptoms vary, (usually long limbs etc..) very rare syndrome - recessive - abe lincoln could have had it?

Cystic Fibrosis - from mutation in chromosome 7, which regulates the protein CfTR - mucus fills up lungs - difficulty breathing - must be inherited from BOTH parents - RECESSIVE - leads to the immune system attacking the body

Tay Sachs by Kat - where nerve cells deteriorate and die! - cause by a malfunction of a protein called hex A - how is it inherited? - a child gets it from BOTH parents - common within the jewish pop.

PKD - multiple cysts forming in the kidneys, results in kidney failure - caused by two genes PKd1 and PKD2 - u can live with one normal copy, but if both are mutated you get PKD - every cell gets the mutated gene - which is why if affects the whole kidney

Phenylketonuria PKU - occurs when a genetic mutation that disrupts the function of a metabolic enxyme - RECESSIVE disorder - diagnosied thought a blood test - symptomsL vomiting, skin rash, muscle tone, small head - mental retardation - treatment: strict diet, can't eat protein

Muscular Dystrophy - causes: muscle weakness, muscle cells dies, - GIRLS ARE ONLY CARRIERS - bc boys only have one X - exons are missing due to a mutation - only half the gene is made

Huntington Disease - mood swings, irritability, depression, memory loss, - walking and speech become more difficult with age - more popular in the west - DNA testing, pedigree,

Hemophilia - Bill - you bleed too much due to a mutation within the clot formers - you get it from your mom, treated with injections - more pop in African American culture

Sickle cell disease - three types - a mutation causes the cell to become a banana shape - causes blood vessel clots

Beta-thalessemia - critical blood protein is not there - must catch early, rat like face, paleness, irritablitliy - very common, most common in world, more found in the east - you can get blood transfusions therapy

Muscular Dystophy - very rare for girls, usually only carriers - muscle deteriorates - only half of the gene is made