According to Inderjeet Dokal there are currently 13 known variations of genes that cause FA and

APC gene is mutated. When the APC gene mutates it cannot differentiate and the gene starts to pile up.

High-risk families include those whose members carry a mutation in the BRCA2 gene. The mutated BRCA2 gene is inherited in an autosomal dominant pattern. A child needs to inherit just one copy of the mutated gene to have an increased cancer risk. Children who have a parent with a BRCA2

protein and it deletes a small amount of DNA from the CFTR gene. I am going to explain what

Repeat instability is mediated by DNA replication, repair, recombination and transcription in specific tissues and stages of development and cell growth.

Imagine having an almost 100% chance of developing colon cancer. That is what people are told with Familial Adenomatous Polyposis (FAP) if they do not have their over 100 polyps, or growths, removed. FAP is a genetic disorder where normal cells that line your large intestine can grow into cancerous tumors. These tumors must be removed before they become cancerous. This disorder is passed down from parents on the APC gene which is on your fifth chromosome. If the APC gene is mutated you are more likely to develop these growths which lead to cancer in your lifetime. This disorder has an autosomal dominant inheritance pattern, which means if either parent has just one dominant mutated APC gene you have a 50% chance of inheriting it. Symptoms of FAP do not just include the growths in your colon. They can also include skin changes, osteomas or bone growths, and extra or missing teeth.

One system detects defects in the cytosolic parts of the CFTR while the other detects defects within the endoplasmic reticulum membrane. It is apparent that ubiquitylating proteins work with specific factors in order to detect misfolding. For example, Hsp70 detects mutations in the cytosolic regions of the CFTR. It is suspected that Hsp70 keeps the CFTR soluble until the E3 ligase CHIP binds with it. The complex that forms between these two redirects the CFTR to the degradation pathway. Derlin-1 is involved with detecting defects in the endoplasmic reticulum membrane and is involved in the retro-translocation of CFTR from the endoplasmic reticulum so that it can be send to the proteasome for degradation [20]. If the CFTR protein is folded correctly within the endoplasmic reticulum, then it is sent to the Golgi apparatus. The coat protein complex II (COPII), which is found within the ER membrane, helps to maintain the correct CFTR structure and location, conformation, and protein-protein interactions as this occurs. Final processing for the CFTR is carried out within the Golgi, as the CFTR replaces a mannose-enriched side chain with a mature complex oligosaccharide side chain. After this is completed, the CFTR is moved to the apical membrane where it has a half-life of 12 to 24 hours. If a CFTR is functioning poorly within the membrane, then it can be recognized by Hsc70 and then

Cystic Fibrosis (CF) can be hard to perceive because the word does not really describe what the disease really is. When we think of the word Fibrosis, we associate it with a lot of scarring and we relate the word cystic to mean fluid filled sacs. Cystic Fibrosis (CF) is genetic; which means that it comes from our genes and is encoded in our DNA. Our DNA is shaped like a double helix and humans have fourth-six pairs of these in which we get one from each of our parents. Cystic fibrosis (CF) is a recessive disease and is not considered to be dominate. Recessive and dominant refers to how many copies of the defective genes, one has to have in order to get a disease. The letter B is considered as normal gene and b is considered as an abnormal gene. The little b is the gene that carries the mutation for cystic fibrosis (CF). So if we get one gene from our dad and the other gene from our mom it would translate as big B or little b. These genes can produce four possible combinations. BB, Bb, bB, or bb. In order for a disease to be recessive, an individual would have to have two copies of the defective genes (bb), where one comes from the father and the other would come from the mother. A dominant disease differs from recessive disease because an individual only needs one copy of the defective gene in order to have the disease. According to New England Medical Doctors Durie and Knowles

The gene can be alternative spliced in exons 12, 14, 15 and 17 resulting in different mRNAs and protein isoforms. The CGG trinucleotide repeat in the non-coding part of the FMR1 gene is unstable, thus the repeat length varies among normal population, with normal individuals ranging from 6-55 repeats. The trinucleotide repeat often becomes unstable during maternal transmission to the next generation, giving rise to the expansion of the repeat. Individuals with 55-200 CGG repeats are considered premutation carriers, and in patients with FXS the CGG repeats are above 200 resulting in hypermethylation and therefore silencing of the gene’s CpG site in the promoter region (Willemsen R., 2011). Pietrobono and her team, studied the events prior to the inactivation of the FMR1 gene and demonstrated that the initial events seem to be histone deacetylation and H3-K9 methylation, followed by DNA methylation and H3-K4 demethylation (Pietrobono, R., Tabolacci, E., Zalfa, F., 2005). However, work carried out on human embryonic stem cells has proven that FMR1 inactivation is a result of downregulation of transcription and chromatin modifications, prior to DNA methylation (Willemsen R.,

An example of this are the BRCA1 and BRCA2 mutations. This genes are relate to hereditary breast and ovarian cancer. Based on the results from a 2007 study, BRCA1 is more than dangerous that BRCA2 because more patients were diagnose and more patients died. The risk of a women dying of cancer if she carries a mutated BRCA 1 gene is very high. There's an 18% chance that a women carrying this gene will die if diagnosed with cancer. Based on the chart 16 out 89 patients died.

# Explain the process by which DNA is able to make copies of itself also including an explanation of why it is considered semiconservative replication - There are four steps to replication

     The Northern Blot electrophoresis technique was then used to distinguish between the two probes still remaining in order tofind out which one actually contained the CF gene. This was successful because Northern Blot electrophoresis tests RNA, not DNA. The RNA of cell types affected with CF, along with the RNA of unaffected cell types were placed on a gel. Probe number two bound to the RNA of affected cell types in the pancreas, colon, and nose (all CF-affected cells,) but did not bind to the RNA from non-affected cell types like those of the brain and heart. Probe number one did not bind exclusively to cell types from CF affected areas like number two did. From this evidence, these scientists determined that probe number two contained the CF gene.

What is the disease? What is the mutation that is associated with the disease? What is known about how the mutation reported in the Journal article results in the disease

Fabry disease is a rare genetic disorder. A gene defect (mutation) alters a protein, called an enzyme, that normally breaks down a particular fat (globotriaosylceramide). The mutation keeps the enzyme from breaking down the fat. This causes excess fat to build up in the blood vessels (vasculature) of many organs of the body. Over time, this results in less blood flow and fewer nutrients getting to the body's organs. The buildup can also wear away at nerve fibers. That causes pain and other symptoms. The areas most often affected are the hands and feet, skin, eyes, and digestive system. Eventually the fatty deposits can affect your cardiovascular system, nervous system, and kidneys. This can cause a heart attack, stroke, kidney

Keasling, J.D., B.O. Palsson, and S Cooper. (1991, April). Cell-cycle-specific F plasmidreplication: regulation by cell size control of initiation, 173, 2673-2680. Retrieved on November 26, 2008.

The process of DNA replication plays a crucial role in providing genetic continuity from one generation to the next. Knowledge of the structure of DNA began with the discovery of nucleic acids in 1869. In 1952, an accurate model of the DNA molecule was presented, thanks to the work of Rosalind Franklin, James Watson, and Francis Crick. To reproduce, a cell must copy and transmit its genetic information (DNA) to all of its progeny. To do so, DNA replicates following the process of semi-conservative replication. Two strands of DNA are obtained from one, having produced two daughter molecules that are identical to one another and to the parent molecule. This essay reviews the three stages