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Genetics
How information is transmitted in Biology
Transmission genetics
How genetic information is transmitted from parent to offspring
Molecular-developmental Genetics
How genetic information is transmitted from DNA to gene action
Population Genetics
How genetic information is transmitted over many populations
Blending Theory of Inheritance
Genes are like liquids that blend together
Allele
Different versions of the same gene
Mendel's two conclusions
1. Genes are like particles that do not blend
2. Some Genes are dominant over others
Gene products
Encoded by genes, control traits
Transcription factors
Encoded by genes, control gene expression
Mul1factorial Hypothesis
Continuous traits are encoded by multiple genes in a Mendelian fashion
Tatum and Beadle
one-gene-one-enzyme model
Central Dogma of Molecular Biology
DNA --> RNA --> Protein
Replication
New DNA molecules are made
Transcription
New RNA molecules are made
Translation
New proteins are made
Model organisms
Easy to work with in a lab (ex: fruit flies)
Model organism characteristics
Small, short generation times, small genomes
Pedigree analysis
Tracks inheritance of mutant gene through family history
Genetically modified organisms
Created by inserting a new gene into genome
Kymriah
First FDA approved gene therapy drug - uses T cells to fight cancer
Gene discovery
Finding genes that control individual traits
Mutation
Process that gives rise to new mutants
Forward genetics
1. Start from a pool of random single gene mutants
2. Find the phenotypes of interest
3. Find the mutaGons that cause them
Pure lines
Phenotypes of all selfed offspring identical no matter what generation
Selfing
Self pollination
Monohybrid cross
3:1 phenotype ratio
1:2:1 genotype ratio
Mendel's law of equal segregation
1. A hereditary factor called a gene is necessary for producing pea color
2. Each plant has a pair of this type of gene
3. The gene comes in two forms called alleles
4. A plant can be either Y/Y, y/y, or Y/y
5. In the Y/y plant, the Y allele dominates, and so the phenotype will be yellow
6. In meiosis, the members of a gene pair separate into gametes
7. During fertilization, gametes fuse randomly
8. Equal numbers of each allele are maintained throughout meiosis
Homozygous dominant
Two copies of dominant allele (ex: AA)
Heterozygous
One copy of each allele (ex: Aa
Homozygous recessive
Two copies of recessive allele (ex: aa)
Dihybrid
One copy of each allele for each gene (ex: Aa:Bb)
Dihybrid cross
9:3:3:1 phenotype ratio
Stages of the cell cycle
M = mitosis
S = DNA synthesis
G = gap
Mitosis
2n = 2n + 2n
n = n + n
2 daughter cells
Meiosis
Produces meiocytes that become gametes; 4 daughter cells
Autosomes
All chromosomes BUT sex chromosomes
Sex chromosomes
Determine sex (XX or XY)
Homogametic sex
Female; XX
Heterogametic sex
Male; XY
Autosomal recessive
Phenotype appears in progeny of unaffected parents
Autosomal dominant
If you have one disease allele, you can get the disease; shows up in every generation
X linked recessive
1. Usually present in males
2. None of offspring of affected male show phenotype, but all daughters are carriers
X linked dominant
1. Affected males pass condition to all daughters, no sons
2. Affected heterozygous females mated to unaffected males pass condition to half sons and daughters
Y linked inheritance
SRY gene - testis determining factor, maleness
Product rule
Used to calculate probabilities of mating outcomes
Chi-square test
Used to determine the likeliness of observed results if null hypothesis is true
If < 5%, reject the null
If > 5%, fail to reject the null
X^2=Σ(O-E)2/E
Degrees of freedom
Number of classes minus 1
(ex: for monohybrid cross 1 df;
for dihybrid cross 3 df)
Quantitative phenotypes
Phenotypes varied - normal distribution
Quantitative trait loci
Genes (loci) that control continuous (quantitative) phenotypes (traits)
Mitochondrial DNA
Always passed down from mother
Cytohet
Cells with different organelle genotypes
Recombination map
Chromosome map based on recombination frequencies
Crossing over
Produces new allelic combinations during meiosis
Chiasmata
Chromosome conformations that give rise to crossing over
Double strand break
Physical breakage and rejoining of DNA
Cis
AB/ab
Trans
Ab/aB
Linkage map
Spatial map of genes on chromosome based on recombination frequencies
Genetic map units
Distance between genes for which 1% of meiosis is recombinant
Molecular markers
Sequence variants used to map phenotypes to chromosomal regions
Used to find the genes for traits
Physical maps
Sequence based map of actual genomic DNA
Microsatellites
Small stretches of low complexity repeat sequence
Horizontal transmission
Transferring DNA between individuals of the same generation
Vertical transmission
Transferring DNA from a previous generation
Colony
Derived from a single cell
Cell clones
Bacterial colonies expand clonally
Conjugation
Leads to the formation of new genotypes in progeny; uses pili
Faulty outlooping can lead to plasmids that carry chromosomal DNA
Can then transfer that to other cells
Plasmids
Can sometimes integrate into genome
Transformation
Bacteria can take up DNA from environment
Bacteriophage
Viruses of Bacteria
Can also transfer DNA between cells
Lytic cycle
When bacteriophage turn the bacterial cell into a factory to make more phage
Lysogenic
When bacteria harbors dormant phage
Insertional mutagenesis
Use transposons (mobile DNA elements) to cause mutant phenotype
Can then find gene using sequencing (we know the sequence of the transposon)
Heteroduplex regions
Based on how the cell's DNA repair machinery corrects double strand breaks