Genetic+Disorder+Projects+DB

the GM2 molecules accumlate Nerve cells swell up as GM2 ganglioside accumulates Cells Die Deletion causes a complete protein to be missing How its inherited- early onset-two parents have the mutated chromosome 1 in every 27 Jewish people has Tay Sachs, no motr skills. die at age five late onset-
 * Kat- Tay-Sachs Disease**

In a normal kidney- toxins and blood are separated Cysts grow inside of the kidney Autosomal Dominant- PKD1 (chromosome 16) PKD2 (chromosome 4) Cysts grow as a person ages Kidney cells that already mutated won't let normal kidney cells function 10% of cases are due to spontaneous mutation Autosomal Recessive- must inherit from mutated gene from BOTH parents
 * Caroline- Polycystic Kidney Disease**

Mutation on chromosome 7 without mutation CFTR sits in membrane and controls passage of chloride ions, without CFTR, chloride is not allowed in cells Proteins are killed, sweat is saltier Digestive problems because CFTR doesn't reach intestines, enzymes are recieved that let food be digested properly Prone to infection and makes breathing difficult Inheritance- mutated gene inherited from mother and father - Recessive disorder If both parents carriers, one in four chance kid has it
 * Massey- Cystic Fibrosis**

affects neuron connections in the brain FRMI gene is mutated on the X chromosome Symptoms- Hyperactive/Hypersensitive, physical=longer face Transmission of Fragile X increases with each generation Strange behavior Mostly found in boys because they are XY
 * Patricia- Fragile X syndrome**

Cardiovascular system is weakened Can't Diagnos it looking at DNA Mutation in the fibrillin gene
 * Harrison- Marfan Syndrome**

NF1, NF2 Merlin is a supressor protein- if it is absent, cell growth is uncontrolled CD44 is a receptor protein Survival Rate is low Can cause you to be paralyzed Surgery can get rid of it
 * Faith- Neurofibromatosis**

A genetic disorder HFE gene of chromosome 6 is affected Mutation in the HFE gene- normally it regulates the iron a cell gets HFE doesn't fit in the carrier- can't get into the cells Can cause damage to the lungs Caused by a single gene mutation Symptoms- abdominal pain, arthitis, diabetes, lliver disease Recessive disorder Most common disorder in the U.S. 1/4 Keltic people have it Can be treated with blood donations
 * Keaton- Hemochromatosis**

You get a cut and the clot forms but it gets dislodged You continue to bleed Factor 8 and 9 cause the blood to clot X-linked Get it from your mom How its treated- injections 18,000 people in the U.S.- rare
 * Bill-Hemophilia**

Sickle Cell anemia SC disease S disease A heme is carried and bonds with oxygen Syptoms- extreme pain, damage to heart and lungs, constant tiredness, loss of breathe Out of each type of Sickle cell, there is a 25% chance of getting it Treatment is bone marrow transplant Common in African American cultures
 * RJ- Sickle Cell Disease**

Very rare that girls get the disorder Muscle isn't made anymore, body fat takes up those spaces Girls are only carriers Only half the gene is made
 * Emily-Muscular Dystrophy- Duchenne/Becker**

Inherited disorder Not contagious Dominant disease Symptoms- mood wings, irratibilty, loss of memory, uncontrollable movements No cure In the West, 1 in 20,000 people is born with it DNA testing and family pedigree and determine chances for getting it Cause- Larger gene produces abnormal protein Not altzheimer's but has similar characteristics Drugs can be taken to cure the side effects like depression
 * Blair-Huntington's Disease**

Death of most red blood cells Turns into severe anemia Untreated- complications lead to death before the age of 30 Before six months of age symptoms include progressive paleness, rat-like face One of the most common genetic disorders in the world Pretty low chance of having it in the U.S. Treated by regular blood transfusions and removal of excess iron Usually diagnosed before the age of 2
 * Chandler- Beta-thalassemia**