Genetics Exam 1 Flashcards
Mendel’s first law/Law of segregation
Identifies segregation of alleles during gamete formation and proposes the random union of gametes to produce progeny in predictable proportions determined by chance. 2 alleles for each trait will separate.
Mendel’s second law/ Law of Independent Assortment
During gamete formation, the segregation of alleles at one locus is independent of segregation of alleles at another locus
Chromosome theory of heredity
Chromosomes are the cell structures that carry genes
Reciprocal cross
Where same genotypes are crossed but sexes of donating parents are switched
Test cross
Cross between F1 heterozygous and a pure breeding recessive phenotype
Haplosufficient
One copy is sufficient to produce wild type phenotype
Haploinsufficient
A single copy is not sufficient to produce wild type phenotype
Loss of function mutation
Results in a significant decrease or complete loss of functional activity of a gene product
Gain of function mutation
Identify alleles that have acquired a new function or express substantially more activity than the wild type allele
- almost always dominant
- some are lethal in a homozygous state
Incomplete dominance
Dominance of one allele over another is not complete. Phenotype of heterozygous is distinctive and is typically more similar to one homozygous phenotype than the other.
Codominance
Leads to a heterozygous phenotype different from the phenotype of either homozygous parent. Is characterized by the detectable expression of both alleles in heterozygotes.
sex-influenced traits
the phenotype corresponding to a particular genotype differs depending on sex of organism
nonpenetrant
when a particular genotype fails to produce corresponding phenotype
incomplete penetrance
when traits for which nonpenetrant individuals occasionally/routinely occur
variable expressivity
the same genotype produces phenotypes that vary in the degree/magnitude of expression of allele
pleiotropy
the alteration of multiple, distinct traits of an organism by a mutation in a single gene
epistasis
- causes altered ratios of wild type and mutant phenotypes
- minimum of 2 genes required
- results from mutation in pathways that require a specific activity from every gene in the pathway for wild type phenotype to be produced
duplicative recessive epistasis/9:7
results from complementary gene interaction that requires genes to work in tandem to produce a single product