BIOL 2040 Lecture Notes - Lecture 5: Ldl Receptor, Xanthoma, Mendelian Inheritance
Document Summary
Fh familian hypercholesterolomia affects se asia a lot. Corneal arcus: fatty deposits in iris: ldlr not synthesized at all, ldlr not properly transported from er to golgi for proper expression on cell surface, ldlr does not properly bind ldl on cell surface; defective apolipoprotein. B100(r3500q) or ldl-r: ldlr bound to ldl does not properly cluster in clathrin-coated pits for receptor mediated endocytosis, ldlr is not recycled back to cell surface. Parental phenotype: when the phenotype is the same as a parent. Recombinant phenotype: when an offspring has only one phenotype from each parent. Expected from independent assortment of alleles is 1:1:1:1. Complete dominance: when the dominance of an allele completely covers up the recessive allele. when looking for a dominant allele, observe the relevant phenotype in the progeny that result between individuals from two different pure breeding lines. Complex is formed between ldl cholesterol and the ldl receptor;
