01:119:115 Lecture Notes - Lecture 18: Down Syndrome, Fetus, Mucus
15 Oct 2018
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Document Summary
Test skimming list: ch 14. 4, 15. 4 and 15. 5. Many human traits follow mendelian patterns of inheritance. A pedigree is a family tree that describes the interrelationships of parents and children across generations. Recessively inherited disorders show up only in individuals homozygous for the recessive allele. Albinism (recessive condition) lack of pigmentation in skin and hair. The cystic fibrosis allele results in defective chloride transport channels in plasma membranes leading to a buildup of chloride ions outside the cell. Mucus needs to move up and down, but if it stays in place more probability of bacteria infection. The disease is caused by the substitution of a single amino acid in hemoglobin. Hemoglobin is made up of 4 different subunits. Achondroplasia is a form of dwarfism caused by a rare dominant allele. Timing of onset of a disease significantly affects its inheritance. Alterations of chromosomes structure: causes, errors in meiosis, different chemical/physical agents.
