1. Mutations: mistakes in DNA code (sequence)
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

2. 1. Single/base pt mutation/substitution: One nucleotide gets switched
2. Frameshift: Addition or deletion of one or more nucleotides

3. 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 (47)
Lose/add pieces of chromosomes
Switch pieces of chromosoes
Helpful ex. Sickle cell  normal Hb

4. Sickle Cell. substitution/point. GAG: glutamic acid (hydrophillic aa)
Sickle Cell substitution/point GAG: glutamic acid (hydrophillic aa) sickle cell: GTG: Valine (hydropholiac aa) 2 β globin + 2 ∞ globin= Hemoglobin protein Diabetes: inability to make hormone INSULIN insulin = pancreas (Islets of Langerhans : β cells) [blood sugar] normal level Carbohydrate  [high blood sugar]  secrete insulin  [normal blood sugar] hydrolysis help body cells absorb glucose Cystic Fibrosis cells: trachea lungs create and secrete thick mucus pancreas gland/duct