Exam 1 Flashcards
Allele
A variation on a gene. Interactions between alleles cause dominance relationships.
Dominant Allele
Expresses phenotypically if appears in homozygous or heterozygous.
Haplosufficient
Where only one allele is needed for a phenotype to be expressed.
Haploinsufficient
Where both chromosomes need to contain the same allele for a phenotype to be expressed.
Loss-of-function allele
Allele that results in less protein activity, and thus results in less function.
Gain-of-function allele
Allele that results in more protein activity, and thus results in new function.
Null Mutation
aka Amorphic Mutation. Complete loss of function in a gene.
Leaky Mutation
aka Hypomorphic Mutation. Partial loss of gene function.
Hypermorphic Mutation
Mutation leading to excessive amounts of gene function/ protein activity.
Neomorphic
New gene function.
Incomplete/ Partial Dominance
Phenotypic expression where traits are more similar to one homozygous phenotype than the other.
Codominance
Detectable expression of both alleles in heterozygotes.
Allelic Series
Spectrum of alleles in dominance and activity of protein product.
Temperature Sensitive Allele
Allele that changes expression based on temperature.
Lethal Mutation
Kills organism
Sex Limited Traits
Aw Yeah
Sex Influenced Traits
Autosomal trait that is expressed differently based on sex.
Delayed Age of Onset Trait
Have your balls dropped?
Penetrant
Phenotype matches genotype
Nonpenetrant
Phenotype does not match genotype.
Incomplete Penetrance
Phenotype kind of matches genotype?
Variable Expressivity
Variation in the degree of expression of a phenotype.
Gene - environment interaction
Gene interacts with environment.
Pleiotropy
Alteration of multiple traits by modifying one gene.
Biosynthetic Pathway
Network of interacting genes that act to produce a molecule or compound.
One gene one enzyme hypothesis
cool
Epistasis
Gene interactions in which the expression of one gene changes or prevents the expression of another. XIST?
Complementation
Organisms with the same abnormal phenotype produce the same wild-type phenotype.
Mutation Frequency in Haploids
Number of mutations that occur in a single gene.
Mutation Frequency in Diploids
of mutational events that occur in a gene over a period of time, for example one generation.
Larger genomes have _______ mutation frequency than smaller genomes.
Larger genomes have higher mutation frequency than smaller genomes.
Some genes have ________ tendency to mutate than others.
Higher or lower. Lol bad flashcard.
Point Mutation
Localized Mutations at specific locations
Mutations occur _______ and _____ in response to the environment
Mutations occur randomly and not in response to the environment.
Base Pair Substitutions
Transition, transition.
Silent Mutation
Substitution of base pair without any affect on the amino acid sequence. Produces same AA as wild-type. Code is redundant.
Missense Mutation
Results in amino acid change to protein.
Nonsense Mutation
Creates a stop codon in place of an AA codon.
Frameshift Mutation
Alteration of reading frame of codon sequence due to removal or addition of a base pair.
Regulatory Mutation
Mutation in non-coding regions such as promoters, introns, or splicing regions.
Promoter Mutation
A type of regulatory mutation. Causes issues with beginning transcription.
