PCTH 201 Lecture Notes - Lecture 14: Rna Splicing, Gene Polymorphism, Sepsis
Document Summary
Humans are diploid (2n) organisms: carry 46 chromosomes (23 pairs, two complete sets of chromosomes (one from father and other from mother) Introns (non-coding portions of the sequence) are spliced out that will be translated into proteins: summary: after splicing, introns are removed and exons are joined together (ligated) Snips (single nucleotide polymorphisms: happen every 250bp, huge drug response markers, 55 million are known. Snips in exon affect protein sequence or cause silent mutation. Snips in intron/non-coding sequence affect gene splicing, transcription factor binding and mrna stability/levels. Sepsis steps: sirs (systemic inflammatory response syndrome, sepsis. 2 sirs + confirmed or suspected infection: severe sepsis. Sepsis + signs of end organ damage1. 1 end organ damage usually refers to damage occurring in major organs fed by the circulatory system (heart, kidneys, brain, eyes) which can sustain damage due to uncontrolled hypertension, hypotension, or hypovolemia (decreased blood plasma volume).