BME103:T930 Group 16 l2: Difference between revisions

Group 16 decided to investigate cystic fibrosis, a disease that is caused by mutations in a specific gene on the seventh chromosome, and is then passed down through families as a recessive trait. In this disease, mucus accumulates inside the lungs, digestive tract, and other cavities in the body. This life-threatening disease is the most common chronic lung disease to affect children and is often diagnosable by the age of two. However, weaker strains can go undetected until early adulthood. The effects of this disease, however, have been mediated through the use of treatments that can postpone some of the changes that occur in the lungs. Half of the patients with cystic fibrosis live past 28 years, and patients who only have mucus buildup in the digestive tract are even better off. Gene therapy holds great promise for treating cystic fibrosis. The marker associated with cystic fibrosis is a two nucleotide deletion and has identity rs200007348. This two nucleotide deletion is due to an adenine-guanine swap that occurs in the codon TGG. A codon is a genetic code involved in the RNA process that impacts protein translation. When the TGG undergoes the adenine guanine swap, it becomes TGA which codes for the stop codon, ending protein translation. This SNP heightens susceptibility to cystic fibrosis, a disease with the frequency 1 out of 2000 in Europe and 1 out of 3500 in the United States

'''Primer Design'''

[[Image:Protein Misfolding.jpg]]<br>

This diagram shows how membrane proteins are made and destroyed in cells. Membrane proteins comprise approximately 30% of all proteins encoded in genes and carry out numerous critical functions. The folding problem of membrane proteins is directly related to human health. Indeed, accumulation of misfolded membrane proteins is the primary determinant of cystic fibrosis.  

[[Image:Cystic Fibrosis.jpg]]<br>

Large deletions in cystic fibrosis alleles have been estimated to constitute 1–2% pathogenic alleles, but the occurrence could be much higher in classical cystic fibrosis patients with one mutation detectable by the routine screening/sequencing work-up. The rearranged region is flanked by a pair of perfectly inverted repeats of 32 bp. The start and end of the 32 bp repeats (blue arrows) are denoted by vertical dashed lines. The nucleotide sequence alignment shows that I and II (reverse-complemented) are highly homologous.

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