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BME103:T930 Group 16 l2: Difference between revisions
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<!--- Include an illustration that shows how your system's primers allow specific amplification of the disease-related SNP ---> | <!--- Include an illustration that shows how your system's primers allow specific amplification of the disease-related SNP ---> | ||
[[Image:Protein Misfolding.jpg]]<br> | [[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> | [[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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