Genetics Flashcards
Homologues
analogous of chromosomes (i.e. humans have 23 homologous pairs), one from each parent
Locus
location of a gene on a chromosome
Homozygous
both alleles are the same for a gene
Heterozygous
alleles are different for a gene
Hemizygous
there’s only 1 allele present (i.e. X chromosome in males)
Codominance
when more than 1 dominant allele exists for a given gene
Incomplete dominance
NEITHER of the 2 alleles present is dominant; a heterozygote expresses a phenotype that is intermediate between 2 homozygous phenotypes
Multiple alleles
a gene controlled by more than 2 alleles
Pleiotropy
When one gene affects multiple characteristics
Lethal allele
allele that results in the death of an individual
polygenic trait
traits that are controlled by multiple genes, traits often form a phenotypic spectrum rather than clear cut categories
Penetrance
the % of people that carry the allele (genotype) and actually express the phenotype.
Constant Expressivity
the population carrying the allele in their genotype will show the same symptoms and have the same phenotype.
Variable Expressivity
the population carrying the allele in their genotype will show variable symptoms and have different phenotype.
Mendel’s first law
law of segregation; the two alleles that compose the gene segregate during Anaphase I of meiosis (each gamete is 1n for each inherited traits)
Mendel’s second law
Law of Independent Assortment; Inheritance of 1 gene doesn’t affect the inheritance of another gene i.e. Prophase I of meiosis, tetrads of homologous chromosomes (4 sister chromatids) are split randomly (as well as the recombinations during Prophase I between homologous chromosomes (crossing-over)
the Griffith Experiment
the hypothesis that a “transforming principle” was responsible for R bacteria to acquire virulence from heat-killed S bacteria.
the Avery, Macleod, and McCarthy
determined that this substance was DNA. Only when adding DNAase to the extract and adding it to live R bacteria did no transformation happen. Proving DNA was the transforming substance.
The Hershey-Chase experiment (1952)
Radiolabeled one group of bacteriophage’s proteins and another’s DNA. Since they leave their capsid outside the host cell, there were no proteins inside the host and radiolabeled DNA reproduced (radiolabeled proteins did not reproduced).
the Wobble hypothesis
- the redundancy of the genetic code, degenerate
- multiple codon can code for the same AA (usually at the third position; the wobble position)
- makes it harder for mutations to have serious effects , mutations on the third position of the codon are silent/degenerate.
Silent nucleotide mutations
mutation that occured at the wobble position that has no effect on the occuring AA sequence
missense nucleotide mutations
mutation that occured caused a change in one AA in the sequence
nonsense nucleotide mutations
mutation that occured coded for a stop codon and stopped the translation
frameshift nucleotide mutations
mutation consisted of the deletion/insertion of one AA and caused a shift in the reading frame causing multiple AA changes
chromosomal mutations (5)
- deletion
- inversion
- insertion
- translocation
- duplication
Mutagen
agent that can cause a mutation