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Depurination
Removal of purine from the deoxyribose
Deamination of cytosine
Removal of an amino group from cytosine, making a uracil
Tautomeric shifts
Bases are in a keto form instead of the enol form
Oxidation
More oxygens on the bases damage DNA structure.
Base modifiers
Use substances like nitrous acid to change identity of the base
Intercalating agents
Interfere with DNA replication, e.g. proflavin
Base analogues
Mutated bases that can be incorporated into DNA strand, e.g. A-T → G-5BU
Northern blotting
Identify specific RNA within mixture with other RNA
Western blotting
Detect a specific protein in mixture of other protein
Vaccine
Biological preparation that provides active acquired immunity
Steps of mRNA vaccine
mRNA is in a lipid nanoparticle
Inserted into muscle cell
mRNA is released into cytosol
Taken up by Rough ER and into Golgi Apparatus
Manifest into spire glycoprotein in plasma membrane
Gene addition
Addition of a gene not naturally found in a species
Molecular pharming
Using mammary cells of livestock to get important human hormones and proteins
Totipotent
embryos only, make any cell but placenta
Pluripotent
embryos only, make any cell PLUS placenta
Describe the technique of RNA sequencing (RNA Seq) and explain what type of information it yields (see Figure 23.2)
RNA seq used to compare transcription of transcriptome
More used because its more quantitative
In use…
Have RNAs
Break RNAs into fragments and add linkers
Synthesize cDNA via reverse transcription PCR
Align sequence using technology
Use computer to align sequences
Homology
the similarities among species that occur due to having a common ancestor
List the seven observations that suggest a disease is caused (at least in part) by a genetic component. Be able to calculate concordance between twins.
When an individual exhibits a disease the disorder is more likely to occur in genetic relatives
Identical twins share the disease more likely
The disease does not spread
Different populations have different frequencies of disease
Develop a characteristic age
Human disorder resembles a genetic disorder that has a genetic basis in another mammal
Correlation is observed between a disease and a mutant human gene or a chromosomal alteration
Locus heterogeneity
Mutation in different genes can cause the same disease or condition
Genome-wide association study
To identify genetic variants that may be associated with a disease or other type of trait
Rb
prevents proliferation of cancer cells
p53
determine if a cell has DNA damage
Genetic drift
genetic variation by chance between generations
Explain the purpose of a genome-wide selection scan (see Table 27.3)
Identify genetic differences between populations of the same or related species found in different natural environments or have different traits
Directional selection
survival of one extreme phenotype
Balancing selection
Favors maintenance of 2 or more alleles
Negative frequency-dependent selection
Rare individuals have higher fitness than more common individuals
Disruptive
Favors survival of 2+ different phenotypes
Stabilizing selection
Favors the survival of individuals with intermediate phenotypes
Assortative mating
Individuals do not mate randomly
Polygenic inheritance
Transmission of traits that are governed by 2 or more genes
Quantitative trait locus (QTL)
The location on a chromosome that harbors one or more genes that affect the outcome of a quantitative trait
Explain how gene number and the environment affect the overlap between genotypes and phenotypes for polygenic traits (see Figure 28.4).
Gene number and environmental affect overlap because is a gene is polymorphic, the varying effects of the environment can change its range of expression, overlapping some phenotypes we’d see in categories
Explain how QTLs are mapped (see Figure 28.5).
Cross 2 inbred strains
Heterozygous F1 back breed to p-gen
Have F2 and see molecular markers
See region and see if genes make sense
Broad sense heritability
takes into account different types of genetic variation that may affect the phenotype
narrow sense heritability
The heritability of a trait due only to the additive effects of alleles