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Class Notes for BMS2042 at Monash University

Human genetics

BMS2042 Lecture Notes - Lecture 22: Epiblast, Antennapedia, Sonic Hedgehog

Week 8. Developmental genetics, Sex determination DSD DEVLOPMENTAL GENETICS Development is a progressive change in cell and tissue organisation (cell structure and function) Development involves specialisation of cells an...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 10: Mitosis, Xyy Syndrome, Penetrance

Week 4. Cytogenetics, sex determination, sex chromosomes, aneuploidy and Changes in chromosome structure CYTOGENETICS, SEX DETERMINATION, SEX CHROMOSOMES AND ANEUPLOIDY Cytogenetics: examinationvisualisation of chromosomes...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 14: Brassicoraphanus, Gene Pool, Aneuploidy

Week 5. Changes in chromosome number: Polyploidy and Population genetics CHANGES IN CHROMOSOME NUMBER: POLYPLOIDY Euploidy: having an equal number of all the chromosomes of the haploid set Polyploid: an individual with mor...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 3: Haemophilia A, Rna Splicing, Zygosity

Week 2. Extensions to Mendelian Inheritance II, Mutation and gene function, Linkage recombination and genetic mapping EXTENSIONS TO MENDELIAN INHERITANCE II Gene interactions: o When two genes affect different traits, dihy...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 16: Blastocyst, Germline Mutation, Zygosity

Week 10. Genomics and transgenic techniques, and Transgenic and knockout mice (gene targeting technology) GENOMICS AND TRANSGENIC TECHNIQUES Molecular genetics: o Deciphering gene codes o Discovering genes associated with ...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 1: Anemia, Thalassemia, Transferase

Week 1. AutosomalSex linked inheritance Extensions to Mendelian I AUTOSOMAL INHERITANCE Model organisms: reproduce quickly, cheap, no ethics, lots of progeny and can be bred in lab eg. mice, bacteria, insects Mendelian in...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 25: Specific Developmental Disorder, Extracellular Matrix, Centromere

Week 9. Model Organisms and Genetic Counselling MODEL ORGANISMS Main model organisms: o Mus musculus (i.e. mouse) o Danio rerio (i.e. zebrafish) o Drosophila melanogaster(i.e. fruit fly) o Caenorhabdis elegans (ie. Nematod...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 19: Chloroplast, Melas Syndrome, Intron

Week 7. Diagnostic genetic testing, NonMendelian inheritance, and Mitochondrial DNA disorders DIAGNOSTIC GENETIC TESTING Prenatal diagnosis: o Aims to inform couples about risk of birth defects or genetic disorders and how...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 8: Meiosis, Genetic Linkage, Genetic Screen

Week 3. DNA markers and Molecular mapping, DNA fingerprinting and profiling DNA MARKERS AND MOLECULAR MAPPING You can map a DNA sequence even if it is not a gene (not coding sequence) all that is required are allelic diffe...

Health Sciences - BMS
BMS2042
Saw Hoon
BMS2042 Lecture Notes - Lecture 16: Relative Risk, Candidate Gene, Twin Study

Week 6. Quantitative genetics QUANTITATIVE GENETICS Qualitative eg. CF or no CF Quantitative eg. height, weight, skin colour Multifactorial inheritance = polygenic inheritance + environmental Polygenic: o Each gene exerts ...

Health Sciences - BMS
BMS2042
Saw Hoon

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