Part one: Background Research

1. The disorder that I am researching is Polycystic Kidney Disease(PKD or

Polycystic renal disease) and it fits into the single gene defect.
2. The most common symptoms of PKD are: Multiple cysts in their kidneys - these may enlarge the kidney squeezing on the
blood vessels around them and may appear in other parts of the body like the liver, pancreas, seminal vesicles and ovaries(if the person is female).

Headaches Abdominal pain or tenderness Blood in the urine Excessive urination at night Flank pain on one or both sides - pain in both sides of the body between the
upper abdomen and the back.

Drowsiness Joint pain Nail abnormalities - problems with the color, shape, texture, or thickness of the
fingernails or toenails.

Abnormal heart valves High blood pressure - may decrease the kidneys ability to remove harmful toxins
from the bloodstream.

Kidney stones Aneurysms - bulges in the walls of blood vessels-in the brain One form of heart disease Intracranial aneurysms Abdominal hernias Diverticulosis - small pouches bulge outward through the colon

The Polycystic Kidney Disease is passed down through families. There are two forms of this disease: Autosomal Dominant Polycystic Kidney Disease (a person has to inherit one copy of an infected gene to develop it) and Autosomal Recessive Polycystic Kidney Disease (a person has to inherit two copies of an infected gene, one from each parent, to develop it) often abbreviated as ADPKD and ARPKD respectively. They have them same symptoms but different genetic causes. The Polycystic Kidney Disease 2 and the Polycystic Kidney Disease 1 and are abbreviated as PKD2 and PKD1 respectively. The PKD2 gene is located (from base pair 88,928,798 to base pair 88,998,930) on chromosome 4 and the PKD1 gene located on chromosome 16. 3. There is currently no cure for PKD but if it is diagnosed in its early stages, the upcoming or anticipated symptoms can be prevented or treated. If a case is so bad that it leads to kidney failure, dialysis (the clinical purification of blood thus, as a substitute for the normal function of the kidney) or kidney transplantation can be done but they are basically replacement therapy because they dont cure PKD.

4. Since 1982, the PKD Foundation has led the fight against PKD through vital research funding and patient education. Now promising clinical trials, as well as the PKD Foundation's integrated research and development program focused on "Accelerating Treatments to Patients" featuring drug development, through drug repurposing, targeted research grants, core grants, scientific meeting support, PKD Outcomes Consortium Project (PKDOC), tissue donation and information on clinical trials and clinics for PKD patients they offer help and hope to millions worldwide with PKD. 5. Autosomal Dominant Polycystic Kidney Disease

Pp is a parent that has the disease while pp is a parent that doesnt. If Pp and pp had a child their child would have a 50% chance of inheriting the disease.

Autosomal Recessive Polycystic Kidney Disease

Pp is a parent who has the disease while PP is a parent who doesnt have the disease, so the probability of their child having the disease is 0% because it is carried as a recessive gene so any dominant gene will overpower it.

6.

My References: http://www.ygyh.org/pkd/whatisit.htm http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001531/ http://www.uvm.edu/~cgep/Education/Inheritance2.html http://www.pkdcure.org/research