Biology 3592A Lecture Notes - Lecture 17: Intron, Antisense Rna, Exon
16 Nov 2016
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Coding regions/splicing = abnormal protein - quality. Mutations not affecting protein product itself but too little or too much quantity. Each situation may or may not be equally detrimental. Loss of protein function, rare where you get gain of function (function better or more of it), rare new property (beneficial and selected for), ectopic expressed in wrong time/place cancer. Loss of function may be total or partial. Leaky reduced function cause reduced amount being produced. Trisomy 21 gain of function on a large scale. (cid:373)a(cid:455) e(cid:374)ha(cid:374)(cid:272)e protei(cid:374)"s fu(cid:374)(cid:272)tio(cid:374) (cid:894)e(cid:454) (cid:272)atal(cid:455)zes rea(cid:272)tio(cid:374) faster(cid:895) Sickle cell homozygous form all cells have sickle shape have no effect on binding oxygen but actually causes globin molecules to polymerize/aggregate in low oxygen conditions causing deformation of blood cell shape. Heterozygous form immune to malaria heterozygous advantage. Difference between hemoglobins are stage during development. Alpha one and two in fetal and adult.
