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DNA (deoxyribonucleic acid) Bases/Base Pairs Nucleotides 1. 2.
3. Nitrogenous Base Base Pairs: A – T C – G
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DNA Organization Chromatin organized: DNA Histones
One Duplicated Chromosome
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DNA Functions Heredity Replication Protein Synthesis
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Human Chromosomes A Pair of Duplicated Chromosomes
Autosomes Sex Chromosomes 46 individual chromosomes / 23 pairs of chromosomes they are the same - code for same type of trait they are different - code for different version of trait
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Understanding the Numbers
1 chromosome is 1 large DNA molecule a gene is a specific sequence of nucleotides ATTCCGTAGCTGATCGTAAAGGG genes per chromosome 25,000-30,000 genes per human genome
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Genetic Terminology Genes Alleles Locus Homozygous Heterozygous
contain genetic information about a specific trait Alleles slightly different forms of genes on homologous chromosomes Locus the gene’s specific site on the chromosome Homozygous pair of the same alleles Heterozygous pair of different alleles Dominant allele whose trait is expressed represented by upper case letters "A" Recessive allele whose trait is masked by the dominant allele represented by lower case letters "a"
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Genotypes and Phenotypes
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Autosomal Recessive Inheritance
PKU Cystic Fibrosis Tay-Sachs Disease
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X-Linked Recessive Inheritance
Hemophilia Duschenne’s Muscular Dystrophy Red/Green Color Blindness
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Replication Making an exact copy of DNA
Occurs just prior to cell division Double helix unwinds DNA polymerase adds bases Two exact copies are made
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Protein Synthesis Transcription DNA to mRNA Translation
mRNA to Protein
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From Gene to Protein DNA RNA Protein
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Genetic Code Codons three base code Code for specific amino acids
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Point Mutation Spontaneous Mutation Environmental Insult Mutagenesis
Carcinogenesis Mutation is corrected
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Point Mutation Mutation is not corrected Mutation is corrected
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Sickle-Cell Anemia Mutation
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Sickle-Cell Anemia Mutation
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Two-Hit Hypothesis Born with 2 genes or alleles for any given disease:
one from mom one from dad If one is bad, this increases your chance of getting the disease
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Cancer in Women
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Lung Cancer
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The Neuron
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Nerves Bundles of Axons Same function Phrenic nerve Alcohol Overdose
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Axonal Membrane of a Neuron
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Ion Channels Cell membrane proteins that pass ions in and out of the cell Voltage-Gated Ion Channels gates are regulated by membrane voltage Chemical-Gated Ion Channels (also called Receptors) gates are regulated by neurotransmitters Iontotropic fast Metabotropic (G-protein coupled) requires second messenger cascade slow
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Chemical-Gated Ion Channels
Iontotropic Metabotropic
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Electrochemical Gradient
Inside the Cell More K+ Less Na+ Outside the Cell More Na+ Less K+ Ion Flow Mantra: Na+ In, K+ out
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Depolarization/Hyperpolarization
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Action Potential Phases
2 Rapid 3 1 Threshold 4 Phase Ion responsible Ion Channel Responsible 1. Threshold Na+ Chemical-gated Na+ channel 2. Rapid Depolarization Na+ Voltage-gated Na+ channel 3. Repolarization K+ Voltage -gated K+ channel 4. After Hyperpolarizatoin K+ Na+/K+ pumps
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Na+/K+ Pumps After the Action Potential,
Na+/K+ pumps move Na+ ions back out of the cell and move K+ ions back into the cell The movement is against the concentration gradient of each ion so it requires energy (ATP) The pumps move 3 Na+ ions for every 2 K+ ions
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Unmyelinated Propagation
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Myelinated Propagation
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Synaptic Action Voltage-gated Ca2+ channels Synaptic Potentials: EPSP
IPSP
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Synaptic Potentials Excitatory Postsynaptic Potential (EPSP)
triggered by excitatory neurotransmitters open ligand-gated Na+ channels allows Na+ to flow inside the cell causing a slight depolarization of the postsynaptic cell moves the postsynaptic cell closer to firing an action potential Inhibitory Postsynaptic Potential (IPSP) triggered by inhibitory neurotransmitters open ligand-gated K+ channels or Cl- channels allows K+ to flow out of the cell or Cl- to flow inside the cell causing a slight hyperpolarization of the postsynaptic cell moves the postsynaptic cell further from firing an action potential
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Neurotransmitters Neuropeptides Amines Amino acids Opioid peptides
Enkephalins (ENK) Endorphins (END) Peptide Hormones Oxytocin (Oxy) Substance P Cholecystokinin (CCK) Vasopressin (ADH) Neuropeptide Y (NPY) Hypothalamic Releasing Hormones GnRH TRH CRH Amines Quaternary amines Acetylcholine (ACh) Monoamines Catelcholamines Epinephrine (EPI) Norepinephrine (NE) Dopamine (DA) Indoleamines Serotonin (5-HT) Melatonin Amino acids Gamma-aminobutyric acid (GABA) Glutamate (GLU) Glycine Histamine (HIST)
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Brain Organization
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Spinal Cord Anatomy Dorsal Ventral Dorsal Horn: Sensory information in
Ventral Horn: Motor information out
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Sensory Action
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Spinal Cord Organization
Posterior Columns or Dorsal Columns Proprioception: sense of body part location and movement Lateral corticospinal pain temperature crude touch deep pressure tickle itch Name of Tract describes the direction of action potentials
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Spinothalamic Tract Carries sensation of pain, temperature, crude touch, pressure, tickle and itch to the Somatosensory Cortex
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Brainstem Brainstem: arousal center (ARAS) sensory in pathway
motor out pathway Midbrain Superior Colliculus Inferior Colliculus Pons REM sleep Medulla breathing center cardiac center
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Cranial Nerves I. Olfactory II. Optic III. Oculomotor IV. Trochlear
smell II. Optic vision III. Oculomotor eye movement IV. Trochlear V. Trigeminal face movement mastication VI. Abducens VII. Facial face/tongue movement VIII. Vestibulocochlear hearing/balance IX. Glossopharyngeal taste/swallowing X. Vagus parasympathetic NS XI. Accessory neck movement XII. Hypoglossal tongue movement swallowing Cranial Nerves
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Ascending Reticular Activating System (ARAS)
Arousal Center
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Cerebellum Motor Coordination Fine tuning of: sensory systems emotions
learning and memory Autism decreased cerebellum size
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Thalamus and Hypothalamus
relay station Hypothalamus regulation center
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Nucleus Reticularis Thalami
NRT: GABA cells Gatekeeper
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Hypothalamic Nuclei hunger/thirst blood pressure/heart rate
blood pressure/shivering stress satiety sex memory reproduction thermoregulation reproduction circadian rhythms
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Limbic System Emotion Rewards Memory smell aggression fear learning
recognition memory smell recognition? memory
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Basal Ganglia Movement Parkinson’s Disease cell death in
substantia nigra
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Cortical Lobes Frontal: Strategy and Planning Motor area Parietal:
Somatosensory area Temporal: Audition, Language Occipital: Vision
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Broadmann’s Cortical Reigions
1, 2, 3: Primary Somatosensory Area 4: Primary Motor Area 11: Odor Identification Area 17: Primary Visual Area 18: Secondary Visual Area 22: Wernike’s Area: Auditory Association Area – interprets the meaning of speech by translating words into thoughts 41, 42: Primary Auditory Area 43: Primary Gustatory Area 44: Broca’s Area: Motor Speech Area – produces speech
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