Biology 2581B Study Guide - Midterm Guide: Genetic Disorder, Cystic Fibrosis, Cytogenetics
17 Oct 2018
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Chromosomal disorders (mutations: numerical or structural, detection by cytogenetics, molecular analysis when abnormality is smaller. Gene disorders (mutations: single gene disorders, disorder caused by alteration of a single gene, complex disorders, multiple genes + environment + interactions. Mendelian disorders: one or pair of mutant alleles at a single locus. Inheritance pattern varies with gnomonic location: autosomal, x-linked, y-linked, mitochondrial. Tend to be rare but have significant phenotypic consequences: primarily disorders of the pediatric age range, 10% manifest after puberty, 1% occur later in life. The good news: patterns of single gene inheritance make gene discovery easy. Defective chloride pump leads to less movement of water by osmosis: water unable to hydrate mucus. Treatment: ivacaftor can increase chloride ion transport in some cftr mutations which are properly positioned in membrane, lumacaftor binds and stabilizes protein. Pleiotropy a single gene mutated affects multiple characteristics as it has a role in multiple system.
