CHE 4341 Lecture Notes - Lecture 8: Genetic Disorder, Linus Pauling, Malaria
Document Summary
Video lecture #2 mutations in hemoglobin covers slide 13 from ch. Over time, ppl acquire mutations in the genes coding for important proteins passed on to their offspring. When pathological mutations occur in the germ line, they"re. Pathological substitution happens at core of protein, which can affect: Nonpathological substitution normally on surface of protein so don"t affect function. Mutations of important active site residues (normally pathological) Some mutations stabilize methemoglobin (e. g. hb boston) Oxidized fe(iii) form stabilized: o2 binding is eliminated. Cyanosis blood is = blue to brown. Lose heme; no longer can bind o2. Heme held into place in hb & mb by hydrophobic interactions. His e7 (aka distal his ) forces any ligand binding to fe(ii) in heme to bind at a bent angle. This bent angle allows o2 to bind fe(ii) on heme reversiblyh. Hbs = sickle-cell anemia (glu 6 on chains > val) Inheritance of normal & variant proteins in a heterozygous cross.
