Effect of cystic fibrosis on epithelial cells biology essay

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Effect of cystic fibrosis on epithelial cells biology essay

Cystic fibrosis is an inherited autosomal recessive disease that exerts its main effects on the digestive system and the lungs. This disease is the most common genetic disorder amongst Caucasians. Cystic fibrosis affects about one in 2, people, with one in twenty five being a heterozygote.

With the use of antibiotics, the life span of a person afflicted with CF can be extended up to thirty years however, most die before the age of thirteen. In this paper, I will be focusing on how the cystic fibrosis gene was discovered while at the same time, discussing the protein defect in the CF gene, the bio-chemical defect associated with CF, and possible treatments of the disease.

Finding the Cystic Fibrosis Gene: The classical genetic approach to finding the gene that is responsible for causing a genetic disease has been to first characterize the bio-chemical defect within the gene, then to identify the mutated protein in the gene of interest, and finally to locate the actual gene.

However, this classical approach proved to be impractical when searching for the CF gene. To find the gene responsible for CF, the principle of "reverse genetics" was applied. Scientists accomplished this by linking the disease to a specific chromosome. After this linkage, they isolated the gene of interest on the chromosome and then tested its product.

Utilizing in situ hybridization, scientists discovered the CF gene to be located on the long arm of chromosome number seven. Soon after identifying these markers, another marker was discovered that segregated more frequently with CF than the other markers. This meant the new marker was closer to the CF gene.

They were now able to utilize to powerful technique of chromosome jumping to speed up the time required to isolate the CF gene much faster than if they were to use conventional genetic techniques.

To get these probes, DNA from a horse, a cow, a chicken, and a mouse were separated using Southern Blot electrophoresis. Four probes were found to bind to all of the vertebrate's DNA.

This meant that the base pairs within the probes discovered contained important information, possibly even the gene.

Two of the four probes were ruled out as possibilities because they did not contain open reading frames which are segments of DNA that produce the mRNA responsible for genes. The Northern Blot electrophoresis technique was then used to distinguish between the two probes still remaining in order to find out which one actually contained the CF gene.

Probe number two bound to the RNA of affected cell types in the pancreas, colon, and nose, 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 probe number two did.

From this evidence, it was determined that probe number two contained the CF gene. The chances for hybridization may have been decreased because of the low levels of the CF gene present within the probe.

Hybridization chances could also have been decreased because the cDNA used was not made from the correct cell type affected with CF.

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The solution to this lack of hybridization was to produce a cDNA library made exclusively from CF affected cells. This new library was isolated from cells in sweat glands.

By using this new cDNA library, probe number two was found to hybridize excessively. It was theorized that this success was due to the large amount of the CF gene present in the sweat glands, or the gene itself could have been involved in a large protein family.

Cystic Fibrosis And The Plasma Membrane Biology Essay

Nevertheless, the binding of the probe proved the CF gene was present in the specific sequence of nucleotide bases being analyzed.

The isolated gene was proven to be responsible for causing CF by comparing its base pair sequence to the base pair sequence of the same sequence in a non-affected cell. In those 6, n.

Effect of cystic fibrosis on epithelial cells biology essay

This deletion results in the loss of a phenylalanine residue and it accounts for seventy percent of the CF mutations. In addition to this three base pair deletion pattern, up to different mutations have been discovered in the gene accounting for CF, all to varying degrees.

The Cystic Fibrosis gene is located at 7q on chromosome number seven and spans about kilo base pairs of genomic DNA. It contains twenty four exons. The MSD makes up the transmembrane Cl- channels. There is also a Regulatory Domain R-Domain that is located mid-protein which separates both halves of the channels.

It contains multiple predicted binding sites for protein kinase A and protein Kinase C. These types of mutations have been predicted to alter the selectivity of the chloride ion channels.ANTI-AGING FIREWALLS THE SCIENCE AND TECHNOLOGY OF LONGEVITY. A comprehensive document for the benefit of people interested in living very long healthy lives and who are willing to adapt emerging knowledge personally to do so.

The Digestive System of the Human Body - The digestive system is a very important system in the human body. It is a group of organs that work together to turn food into energy and nutrients in the entire body. Author Testimonials “This has been our first experience of publishing in an open access journal and submitted to IJMS because of the Special Issue “Molecular Research on Pulmonary Hypertension”.

Cystic Fibrosis (CF) is an autosomal recessionary familial upset impacting a big proportion of the Caucasic population in North America (Rowe et al., ).

The disease is characterized by the production of thick mucous [ ]. 早めの投稿になります。 広島の名残り雪にしては結構積もりました。 ちょっとびっくりです(^o^) 先日、急遽第2回ロープ高所作業「特別教育」を開催いたしました。. Cystic Fibrosis is an autosomal recessive disorder caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein (1, 2).

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