Transmission genetics
Hereditary and how traits are passed from generation to generation
Molecular genetics
Chemical nature of the gene
Population genetics
Genetic composition of groups of individuals
Monohybrid cross ratio
3:1
Testcross
A cross between an organism of unknown dominant genotype with an organism of known recessive genotype
Why did Mendel use pea plants?
Many varieties
Easy to cross
They could self fertilize
Monohybrid cross supports:
Segregation
Dihybrid cross supports:
Independent assortment
Dihybrid cross ratios
9:3:3:1
Trihybrid cross ratios
27:9:9:9:3:3:3:1
Chromosome
a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
Interphase
Period of cell cycle for cell growth
S phase
DNA synthesis
Prophase
Condensation of chromosomes. Spindle apparatus forms
Prometaphase
Spindle fibers interact with sister chromatids. They connect to the kinetochore
Metaphase
Chromosomes line up in the middle of the cell
Anaphase
Centromeres divide longitudinally (sister chromatids are then considered chromosomes)
Telophase
Nuclear envelope forms around each group of chromosomes
Meiosis results in
4 haploid daughter cells
Leptotene
Chromosomes become visible as long, threadlike structure; pairing of chromosomes; double strand breaks (lepto- "thin like") (1)
Zygotene
Synapsis of homologous chromosomes begins; synaptonemal complex begins to form (2)
Pachytene
Complete formation of synaptonemal complex and crossing-over begins (pachy- "thick") (3)
Diplotene
synaptonemal complex disappears, chiasma still present (diplo- "two") (4)
Diakinesis
Maximum chromosome contraction
Mitotic spindle
An assemblage of microtubules and associated proteins that is involved in the movements of chromosomes during mitosis.
Epigenetics
The study of environmental influences on gene expression that occur without a DNA change
Incomplete dominance
Intermediate heterozygote phenotype
Codominance
Heterozygote shows phenotype of both parents
Complementation
Phenomenon in which two parents that express the same or similar recessive phenotypes produce offspring with a wild-type phenotype.
Two albino parents have 4 normal offspring. This is an example of:
Complementation
3 ways dominant mutant alleles can affect phenotypes:
Gain of function, dominant-negative mutation, and haploinsufficiency
Germline mosaicism
Specialized type of mosaicism where some gametes carry the mutation and rest are normal May produce a disease in the offspring that is not carried by parent's somatic cells AND/OR cause only some offsprings to be affected by autosomal dominant, completely penetrant disease
One map unit is equivalent to:
1% recombination frequency
Probability of a double crossover:
the product of the probabilities of the single crossovers (times the total to get expected number)
Interference
1 - c where c is observed crossovers/expected number
Dosage compensation
Theory that X chromosome inactivation equalizes gene expression between males and females
Barr body
A dense body formed from a deactivated X chromosome
Sex limited
When expression of a gene depends on the sex of the individual.
Mitochondrial inheritance
Disease occurs in both males and females, inherited through females only
Homoplasmy vs heteroplasmy
Mitochondria within a cell can all have the same mtDNA (homoplasmy) or 2 or more mitochondrial genomes (heteroplasmy)
Mutational load
% of mitochondria that are mutant correlates with the degree of biochemical deficiency