Genetics Research Paper

1084 WordsMay 3, 20125 Pages
The topic that I chose to write my paper on is Polycystic Kidney Disease. This is a genetically transmitted disease of the kidneys which occurs in humans and some animals. Polycystic Kidney Disease is the most common genetic, life-threatening disease; it affects over 12.5 million people worldwide, and roughly 500,000 in the United States. The disease is characterized by multiple fluid filled cysts appearing in both kidneys. Those cysts reduce the kidney function, which results in eventual kidney failure. There are two different strains of the disease; Autosomal dominant PKD and Autosomal recessive PKD. Autosomal dominant PKD occurs when there are mutations in either the PKD-1 (located on chromosome 16) or PKD-2(located on chromosome 4) gene. The function of these genes are to make proteins which help transmit chemical signals to the cell’s nucleus. They also help with kidney development, organization, and function. If one parent has autosomal dominant PKD, there is a fifty percent chance the child will possess the disease’s gene. However, about five to ten percent of ADPKD happens spontaneously, with neither parent carrying the gene. Autosomal dominant PKD is a late-onset genetic disease, meaning the affected person can go for multiple decades without ever showing any symptoms. Autosomal recessive PKD occurs when there are mutations in the PKHD-1 gene, which is located on the short arm of chromosome 6. The function of this gene is the same as the previous affecting genes; to make proteins to transmit chemical signals to the cell’s nucleus. If only one parent carries this gene, the child will not get the disease, but may pass the gene onto their future offspring. If both parents carry the gene, then the child has a twenty-five percent chance of having the disease, which means the parents’ genotype would have to both be heterozygous. The symptoms of autosomal

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