Wk 11 - Introduction to Genetics
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History and Background of genetics: Gregor Mendel the father of genetics 1822- 18?? Studied genetic ? of ? Crossbred plants to create a ? With different traits DNA structure of double ? discovered 195? by Watson and Crick . They used an X-ray crystallography method developed by Rosalind Franklin
1844 Inheritance , peas Hybrid Helix 1953
Basic principles of genetics Genetics is the study of : G? In? and h? Variability in o? Genes are ? regions of DNA molecules Contain the code for p? Chains and p? formation
Genes Inheritance and heredity Organisms Functional Polypeptide chains, proteins
Basics genetics: The order and number of amino acids dictate the final p? form and f? P? carry out almost all cellular f? Mutations = genetic v? Can lead to changes in p? function
Protein form, function Proteins , function Variability Protein
Structure and location of genes Genes are found in n? acids in DNA –,000 genes are spread over – pairs of chromosomes inherited at conception. – pairs of autosomes (?) 1 pair sex chromosomes
Nucleic acids 21,000 , 23 pairs 22 pairs , body
Genes and nitrogenous bases Genes differ by the n? and s? of nucleotides A? T? G? C? Human genome approximately -.2 billion base pairs ( paired nucleotides)
Adenine Thymine Guanine Cytosine 3.2 billion
Gene expression Differentiation of cells = specific form and f? Specific genes are e? Others are not u? Genes influence cell f? Small changes in genotype leads to increase/decrease proteins = change in ph?
Function Expressed , used Function Phenotype
Terminology Genotype = ? Collection of genes on ch? Phenotype= ? Characteristics of gene e? Genome (human) = collection all genes in specific o? species
Individuals , chromosome Physical , expression Organism
Allele = alternative forms of gene located on homologous paired chromosomes : 1 paternal, 1 maternal. Homozygous = both alleles are the ? Heterozygous= ? Alleles (dominant / recessive )
Same Different
The central dogma of genetics: Genetic information in cells from DNA > mRNA> protein. Genes specify the s? of mRNA molecules which in turn specify the sequence of p?
Sequence Proteins
Gene inheritance : Alleles Physical traits are i? Dependant alleles are received at c? Each parent has ? possible alleles, d? and r?
Inherited Conception 2, dominant and recessive
Inheritance of alleles : paternal and maternal AA, Aa, Aa, aa There is a –% chance of inheritance
1 quarter , 25%
Human Genome project and personal genome sequencing Started 199- Completed in 200- , -2% complete Detect for: disease s? C? Fibrosis D? Syndrome Expression of p? traits Pre n? counselling Pharmacogenomics
1990 2003, 92% Susceptibility Cystic fibrosis Down syndrome Physical Natal