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Central Dogma. Translation DNA RNA protein rRNA mRNA tRNA. Mutations: mistakes in DNA code (sequence) DNA polymerase (1mistake in 1 million) DNA polymerase II (checks and fixes mistakes). There are three types of mutations:
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Central Dogma Translation DNA RNA protein rRNA mRNA tRNA • Mutations:mistakes in DNA code (sequence) • DNA polymerase (1mistake in 1 million) • DNA polymerase II (checks and fixes mistakes) • There are three types of mutations: • Single/base pt. mutation/substitution • Frameshift • Chromosomal
1. Single/base pt mutation/substitution: One nucleotide gets switched 2. Frameshift:Addition or deletion of one or more nucleotides
3 Affects of Mutations Most frequently: Nothing happens/uneventful 95% introns Cell specialization (ex. adrenal gland mutation hemoglobin gene) Degenerate code Harmful Cell specialization- specific gene ex. B globin – bone marrow: sickle cell insulin - pancreas: diabetes CF protein – mucus lining cells: CF * Chromosomal mutations: >1 gene too many chromosomes: Down’s Syndrome 3 copies of 21 (47) Lose/add pieces of chromosomes Switch pieces of chromosoes Helpful ex. Sickle cell normal Hb
Sickle Cellsubstitution/point GAG: glutamic acid (hydrophillic aa) sickle cell: GTG: Valine (hydropholiac aa) 2 β globin + 2 ∞ globin= Hemoglobin proteinDiabetes: inability to make hormone INSULIN insulin = pancreas (Islets of Langerhans : β cells) [blood sugar] normal levelCarbohydrate [high blood sugar] secrete insulin [normal blood sugar] hydrolysis help body cells absorb glucoseCystic Fibrosiscells: trachea lungs create and secrete thick mucus pancreas gland/duct