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Biology 3592A (36)

Class Notes for Biology 3592A at Western University

Principles of Human Genetics

Biology 3592A Lecture Notes - Lecture 6: Comparative Genomic Hybridization, Sanger Sequencing, Mutation
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Somatic Mosaicism: Implications for Disease and Transmission Genetics October 5, 2017 Lecture 6 Mosaicism Mosaicism: genetic variation present within the genome of different cells within a single individual...

Biology
Biology 3592A
Kathleen Hill
Biology 3592A Lecture Notes - Lecture 2: Ribosomal Rna, Intron, Neutral Mutation
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Basic Human Genetics September 19, 2017 Lecture 2 The Human Genome is a Multi-Volume Instruction Manual • Chromosome  volume of text • Genes  chapter of text • ACGT Nucleotides  letter alphabet ...

Biology
Biology 3592A
Kathleen Hill
Biology 3592A Lecture Notes - Lecture 3: Missense Mutation, Exosphere, Stop Codon
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Translational Bypass Therapy Gene Therapy September 21, 2017 Lecture 3 Gene Therapy Translational Bypass Most genetic disease is caused by inframe nonsense mutations Introduce a premature termination codon (PTC) within the...

Biology
Biology 3592A
Kathleen Hill
Biology 3592A Lecture Notes - Lecture 1: Necrosis, Y Chromosome, Angiogenesis
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Clonal Mosaicism September 14, 2017 Lecture 1 The Rise of de novo Mutations & Mosaicism • Clonal Mosaicism: arises when a postzygotic mutational event is detectable in subpopulations of c...

Biology
Biology 3592A
Kathleen Hill
Biology 3592A Lecture Notes - Lecture 23: Relative Risk, Personal Genomics, Drug Metabolism
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Lecture 23 Personal Genomics Pharmacogenomics 1 2 3 4 Info from family members largely determines your degree of risk for a particular disease For lower risk why spend money on getting tested 5 6 Clinical validity prob...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 22: Genetic Disorder, Phenylalanine Hydroxylase, Ldl Receptor
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Lecture 22 - Treatment of Genetic Disease 1 2 - Can’t just treat ex cystic fibrosis – need to know what mutation – needs to be personalized 3 - Don’t know enough about complex disorders to treat - ...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 21: Oncogene, Gene Expression, Metastasis
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Lecture 21 - Genetics of Cancer 1 2 3 neoplasia – uncontrolled cell growth - Not necessarily cancer if you have cell proliferation, has to be malignant o Invades blood cells or other cells – cell is diff...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 20: Cystic Fibrosis, Genetic Marker, Osmosis
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Lecture 20 - Cystic Fibrosis 1 2 - How do you find gene responsible for this - Functional: identify that this protein is mutated, then find genotype of it - Positional: which genetic markers are close to...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 18: Glutamine, Protein Structure, Gametogenesis
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Lecture 18 - Unstable Repeat Expansion 1 - Repetitive DNA in a gene – tandem sequences that can alter regulation or protein structure of a gene 2 3 - If mutation in germ cells – can be passed on - ...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 17: Intron, Antisense Rna, Exon
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Lecture 17 – Molecular Basis of Disease 1. 2. 3. - mutations do two things - coding regions/splicing = abnormal protein - quality - mutations not affecting protein product itself – but too little or too mu...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 16: Centimorgan, Linkage Disequilibrium, Restriction Fragment Length Polymorphism
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Lecture 16 - Mapping and Gene Identification 1. - how do you find genes used in disease 2. 3. - usually family based study is best – but gonna be limited in numbers - Association - controls gonna be super matched (race, a...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 15: Genetic Disorder, Phenotypic Trait, Epigenetics
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Lecture 15 Complex Disorders 1. 2. 3. common not caused by single gene caused by many genetic locielements and the environment (epigenetics) multifactorial so many more when prevalence in population as we age these comp...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 14: Tumor Suppressor Gene, Histone H3, Oncogene
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Lecture 14 Epigenetics 1 2 3 epigenetics means by which gene expression is regulated marks on top of sequence going to talk about changes to DNA and changes to nucleosome when we talk about DNA its in chromatin Change...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 13: Proband, Pleiotropy, Zygosity
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find more resources at oneclass.com Lecture 13 - Single Gene Disorders 1 2 3 single gene disprders – classic mendelian – super easy and quick to identify complex – hard to identify what is happening b/c so much goin...

Biology
Biology 3592A
Patrick Mc Donald
Biology 3592A Lecture Notes - Lecture 12: Reference Genome, Transcriptome, Copy-Number Variation
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find more resources at oneclass.com Lecture 12: Molecular Genetic Techniques 1. 2. 3. - movement of denatured – renatured (hybridized) – function of temperature and pH 4. - 1000s of REs known – can cut almost at any...

Biology
Biology 3592A
Patrick Mc Donald
Permachart - Marketing Reference Guide: Extensor Carpi Ulnaris Muscle, Flexor Pollicis Longus Muscle, Abductor Digiti Minimi Muscle Of Hand

perm ach artsMT T rigger Points II: Extremities T rigger Points II: Extremities ...

ANAT - Anatomy
ANAT 14
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ANAT - Anatomy
ANAT 14
All Professors
ANAT - Anatomy
ANAT 14
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Permachart - Marketing Reference Guide: Sacral Plexus, Lumbar Plexus, Sympathetic Ganglion

pe rm a ch ar ts MT Spinal Cord 2nd EDITION Figure ...

ANAT - Anatomy
ANAT 14
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Multicellular Biology - Reference Guides

This Guide is the progressive companion to the Cellular Biology title. The complexities of human physiology are made much clearer through the bright graphics and intelligently coordinated text boxes and glossaries that are...

ANAT - Anatomy
ANAT 14
All Professors
Permachart - Marketing Reference Guide: Levator Veli Palatini, Orbicularis Oculi Muscle, Scalene Muscles

Muscular System: pe rm ac ha rts MT Head & Torso 2nd EDITION ...

ANAT - Anatomy
ANAT 14
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ANAT - Anatomy
ANAT 14
All Professors
ANAT - Anatomy
ANAT 14
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Permachart - Marketing Reference Guide: Heart Valve, Inferior Vena Cava, Pulmonary Valve

permacharts TM Cardiovascular Physiology 2nd EDITION HEART STRUCTURE & FUNCTION ...

ANAT - Anatomy
ANAT 14
All Professors
ANAT - Anatomy
ANAT 14
All Professors
Permachart - Marketing Reference Guide: Meiosis, Nuclear Membrane, Nuclear Pore

l e a r n • r e f e r e n c e • r e v i e w permacharts TM CCellular Biology BIOLOGY BASICS C...

ANAT - Anatomy
ANAT 14
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Cellular Respiration - Reference Guides

The specific aspects of cellular respiration are explained in this helpful Guide. The fundamental processes such as the electron transport chain, proton pumps, ATP synthetase, and glycolysis are each described with helpful...

ANAT - Anatomy
ANAT 14
All Professors
Permachart - Marketing Reference Guide: Submandibular Duct, Parotid Duct, Palatine Tonsil

pe rm a ch a rtsMT DDigestive System 2nd EDITION Fi...

ANAT - Anatomy
ANAT 14
All Professors
Permachart - Marketing Reference Guide: Antigen-Presenting Cell, Memory T Cell, Clonal Deletion

permacharts TM IImmunology 2nd EDITION G ENERAL INFORMATION - AN OVERVIEW ...

ANAT - Anatomy
ANAT 14
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Permachart - Marketing Reference Guide: Superior Frontal Sulcus, Inferior Parietal Lobule, Superior Frontal Gyrus

p erm ac hartsMT Brain 2nd EDITION FIGURE 1: GROSS ANATOMY (LATERAL VIEW) ...

ANAT - Anatomy
ANAT 173
All Professors
Permachart - Marketing Reference Guide: Superficial Palmar Arch, Costocervical Trunk, Thyrocervical Trunk

p erm a ch ar tsMT CCirculatory System 2nd EDITION Figure...

Biology
BI 361
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