01:119:115 Lecture Notes - Lecture 18: Genomic Imprinting, Chronic Myelogenous Leukemia, Barr Body
18 Apr 2016
School
Department
Course
Professor
Document Summary
Can"t do experimental mating between individuals unethical and illegal. Instead, analyse results of mating that have already occurred. Shows inheritance patterns within a family over several generations. Predict inheritance of phenotypic traits that are controlled by genotype at single locus. Dna sequencing identify order of nucleotides. Recessive alleles codes for malfunctioning protein or no protein at all. 2 copies of gene usually born from carrier parents. Albinism = autosomal recessive disorder lac of pigmentation in skin. Cystic fibrosis = most common lethal genetic disease in the us. Recessive allele defective or absent chloride transport channels in plasma membranes. Lead to buildup of cl- ions outside the cell. Symptoms mucus buildup in internal organs. Caused by the substitution of a single aa in hemoglobin protein in rbcs. Hemoglobin = 4 polypeptide chains = 2 and 2 mutation gene for. 6th aa = glutamic acid changed to valine forms crystals that cause. Abnormal red blood cells sickles ( moon)
