Wk 11 - Introduction to Genetics Flashcards
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