Genetic+Disorder+Notes+MA


 * **Tay Sachs**
 * inherited and causes nerve cells to deteriorate and eventually die
 * malfunction of protein
 * found in lysosome cells
 * lysosomes are considered the recycling cells
 * people with tay sachs is missing alpha unit...or it is not working right
 * nerve cells swell
 * membrane can not be repaired and made b/c of non recycling in the cells
 * in chromosome 15
 * early onset
 * a child gets it from a parent...both parents have mutate chromosome...25% chance....50% chance they will be carriers
 * late onset
 * babies usually die by age 5
 * don't have motor skills
 * jeuvenile tay sachs...doesnt show til age 5
 * adult onset...starts later in life...muscle weakness and cramps
 * **Polycystic Kidney Disease**
 * PKD when there are multiple systs inside a person kidneys....leads to kidney failure...kidney no longer filters toxins out of the blood
 * Genes: PKD1 and PKD2...cause syst to grow
 * everyone has two copies of each gene
 * a mutation in the genes leads to PKD...if you have one normal copy you are fine...if one is mutated one may mutate as well so a person ends up with it
 * cysts block kidney cells from filtering blood
 * dominant genetic disorder
 * only need to inherit from one parent
 * 10% of cases are due to spontaneous mutations
 * can be austosomal recessive
 * both parents must be carriers
 * **Fragile X Syndrome:**
 * makes peoples x's look weird
 * the mutation causes a repeat of a codon
 * symptoms are different for everybody...hypersensitive...hyperactive....long face...don't always have these physical problems
 * x linked recessive inheritants
 * causes strange behaviors...clapping your hands when your happy...trouble making connections with people
 * **Marfan System:**
 * Cardio system gets weak...aeorta gets smaller
 * eyes and organs mess up
 * cardio is too weak to function
 * anyone can get it...1 in 5,000 people are born with the disorder
 * recessive...can't diagnose it looking at DNA
 * abe lincoln may have had it
 * long arms/legs/fingers/scholiosis
 * **Neuroofibromatosis:**
 * NF1 and NF2
 * NF1 is caused by a gene mutation on chromosome 17
 * MF2 is caused by a gene on chromosome 22
 * Nf1 have learning disabilities...caused by mutation
 * **hemochromotosis:**
 * body stores too much iron
 * traced back to HFE
 * If you don't have HFE you have hemochromotosis
 * HFE gene doesnt fit in the carrier that moves HFE protein into cell...when it can't move HFE doesn't get into cell so it can't regulate iron that is made
 * can be treated with blood donation
 * **Hemophilia:**
 * a clot forms and falls out
 * factor 8 and 9 cause blood to clot
 * factor 8: hemophilia type a
 * factor 8 can be missing
 * can't have shots
 * **Cycle Cell Disease:**
 * beta globin bonds with alpha globin to make heboglobin
 * protein gag takes in valine...
 * symptoms...extreme pain to spleen/lung/
 * fatigue
 * shortness of breath
 * recessive
 * bone marrow transplant
 * **PKU:**
 * finalelany fills up in the body..affects neurons in the brain
 * a recessive disorder
 * two heterozygous parents have 25% chance of child with disorder
 * most states require text
 * symptoms: musty smell in urine, skin rash
 * mental retardation/seizures/stunted growth
 * strict diet is advised....avoid certain foods...high protein(eggs milk beans chicken steak fish)
 * **muscular dystrophy**
 * weakness in muscles
 * sex linked disorder
 * boys can get...girls are carriers
 * boys get it because they only have one X
 * females are only carriers
 * proteins are destroyed
 * **Huntington:**
 * inherited...dominant
 * symptoms: depression, mood swings, irritability, uncontrolled movements
 * no cure...pills curb the systems
 * 1 in million are born with it in asia and africa...1 in 20000 in america
 * results in death of person
 * **Beta-thalassemia**
 * beta globin is missing from chromosome 11
 * leads to death in most red blood cells
 * turns into severe anemia
 * results in death before 30
 * catch it early
 * irritability, difficulty feeding, display rat like face
 * most common genetic disorder in world
 * more common in east
 * treated with blood transfusions