Genetics and Evolution Flashcards
What is a gene’s locus?
- its location on a specific chromosome
- the normal locus of a gene is the same across all humans
How many alleles does one inherit per gene?
-2 alleles as we all have 2 copies of each chromosome (homologues) - except for male sex chromos
What is a hemizygous genotype?
-only one allele is present for a given gene, like parts of the X chromo in males
What is complete dominance?
-only one dominant and one recessive allele exist for a given gene, so presence of dominant will mask recessive if it’s present
What is codominance?
-when more than one dominant allele exists for a given gene, like A and B for AB blood type
What is incomplete dominance?
-when a heterozygote expresses a phenotype that is intermediate between the two homozygous genotypes - like Rr is pink
What is penetrance?
- population parameter: probability that, given a particular genotype, a person will express the phenotype
- can be full (100% of those who have it express it), high, reduced, low, or even nonpenetrance
What is expressivity?
- varying phenotypes despite identical genotypes
- if constant, then all individuals with a given genotype express the same pheno
- if variable, there can be diff phenos
- is on more individual level than penetrance
What is Mendel’s first law? With which phase of meiosis does it correlate?
- Law of segregation
1. Genes exist in alternative forms (alleles).
2. An organism has 2 alleles for each gene - one inherited from each parent
3. The 2 alleles segregate during meiosis, resulting in gametes that carry only 1 allele for any inherited trait
4. If the 2 alleles are different, only one will be expressed (dominant) while the other is silent (recessive) - anaphase I of meiosis
What is Mendel’s second law? With which phase of meiosis does it correlate?
- Law of independent assortment
- inheritance of one gene does not affect the inheritance of another gene
- recombination - results in novel allele combinations that were not present in the original chromosome
- prophase I of meiosis
What did Frederick Griffith do and discover?
- Worked with virulent and nonvirulent strains of bacteria causing pneumonia
1. Rats injected with NV strain - lived
2. Rats injected with V strain - died
3. Rats injected with heat-killed V strain - lived
4. Rats injected with heat-killed V strain and live NV strain - died and found live bacteria with smooth capsules (that V used to have) inside - found transformation principle
What did Avery, MacLeod, and McCarty discover?
- separated cellular components of heat-killed V into extracts
- found one particular extract that when added to NV bacteria killed rats
- when this substance was treated with enzymes to degrade DNA, the bacteria was not transformed and mice lived
What did Hershey and Chase do in 1952?
- created bacteriophages with radio-labeled DNA and protein
- one group had radio-labeled S (in protein but not DNA), the other radio-labeled P (in DNA but not protein)
- let the phages infect bacteria and found that radio-labeled DNA had entered them
- concluded that DNA was heritable genetic material
What is the gene pool? What is a wild-type allele?
- gene pool: all alleles that exist within a species
- wild-type: alleles considered normal and prevalent
How can mutations be introduced to DNA?
- mutagens: UV light, chemicals, radiation
- DNA polymerase making errors during replication
- transposons inserting themselves in the middle of a coding sequence
- incorrect nucleotide pairing during transcrip/translat, tRNA with incorrect amino acid for anticodon
What are the point mutations (silent, missense, nonsense)?
- when one nucleotide is switched for another
1. Silent: has no effect on final protein; commonly occurs when changed nucleotide is the third one in a codon bc there is degeneracy (wobble) in genetic code
2. Missense: change results in substituting one AA for another in final protein
3. Nonsense: results in substituting a stop codon for an AA in final protein
What is a frameshift mutation?
- nucleotides are inserted or deleted
- this shifts reading frame as mRNA is read in 3 letter codons
- can cause changes in AA sequence, premature truncation from a nonsense mutation
What are the chromosomal mutations (deletion, duplication, inversion, insertion, and translocation)?
- Deletion: large segment of DNA is lost
- Duplication: segment of DNA is copied multiple times
- Inversion: segment is reversed within chromosome
- Insertion: segment is moved from one chromosome to another
- Translocation: segment from one chromo is swapped with segment from another
What is an example of an advantageous mutation?
- sickle cell disease is a single NT mutation
- those who are heterozygous for sickle cell disease have minor symptoms + resistance to malaria
What is an example of a deleterious mutation?
- XP: inherited defect in which UV radiation DNA damage cannot be repaired
- can cause cancer