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38 Cards in this Set

  • Front
  • Back

Dominant Gene - def'n

A gene seen in organisms with the homozygous and heterozygous genotypes

Recessive Gene - def'n

A gene seen in organisms with the homozygous genotype only

Haplosuffient - def'n

One copy of a gene is sufficient to produce the wild-type phenotype in the heterozygous genotype

Haploinsuffient - def'n

A single copy of a gene is not sufficient to produce the wild-type phenotype in the heterozygous genotype

Loss of Function Mutation

Results in a significant decrease or in the complete loss of the functional activity of a gene product

Gain of Function Mutation

Identification of alleles that have acquired a new function of have their expression altered in a way that gives them substantially more activity that the wild-type allele

Null/Amorphic Mutation - def'n

A loss-of-function mutation that results in a complete loss of gene function in comparison to the wild-type gene product.


The mutant alleles produce no functional gene product and are often lethal in a homozygous genotype

Leaky/Hypomorphic Mutation

A mutation resulting in partial loss of gene function .


Often recessive and lethal.

Hypermorphic Mutation

Mutation that produces more gene activity per allele than the wild-type.



Usually Dominant

Neomorphic Mutation

Gain-of-function mutation resulting in novel gene activity not found in the wild-type

Incomplete (Partial) Dominance

The phenotype of the heterozygote is intermediate between the phenotypes of the homozygous organisms

Codominance

The equal and detectable expression of both alleles in heterozygotes

Allelic Series - def'n

An order of dominance among alleles, based on the activity of each allele's protein product.

Allelic Series - e.g.

Coat color determination in rabbits, where


C = wild-type


ch = Chinchilla


h = Himalayan


c = Albino


Allelic Series: C > ch > h > c

Lethal Allele

Single-gene mutation so detrimental that it causes death early in life or in gestation

Sex-limited trait

When both sexes carry a gene for a trait, but it is expressed in only one sex

Sex-influenced Traits

Traits in which the phenotype corresponding to a particular genotype differs depending on the sex of the organism

Delayed age of onset

Abnormalities manifest after the affected organism has had an opportunity to reproduce and transmit the mutation to the next generation

Complete Penetrance

Phenotype for a trait is always produced when the corresponding genotype is present

Incomplete Penetrance

A particular genotype does not always produce the corresponding phenotype

Variable Expressivity

One genotype produces phenotypes that vary in degree or form of expression

Gene-Environment Interaction

The result of the influence of environmental factors on the expression of genes and on the phenotypes of organisms

Pleiotropy

A single gene mutation that affects multiple and seemingly unconnected properties of an organism

Gene Interaction

The collaboration of multiple genes in the production of a single phenotypic character or a group of related characters

Prototroph

Wild-type

Auxotroph

Mutant, i.e. organism with mutations that prevents its growth on a minimal medium

Epistatis

Gene interactions in which an allele of one gene modifies or prevents the expression of alleles at another gene

Hallmark of a Epistatic Interaction in a Dihybrid Cross

A modification of the 9:3:3:1 ratio due to the combining of two or more genotype classes into a single phenotypic class

Dominant Epistatis - ratio

12:3:1

Recessive Epistasis - ratio



9:3:4

Complementation Group

Mutations of a single gene - i.e. many alleles - that do not complement one another

Recessive Epistatis

Phenotype produced by the interaction of two genes that control a trait in which alleles of one gene mask or reduce the expression of alleles of a second gene

Nonpenetrant

An organism with a genotype corresponding to a mutant phenotype that instead displays the wild-type phenotype

Genetic Heterogeneity

Same phenotype produced by mutation of any one of two or more different genes

Temperature-sensitive Allele

A mutation evident only at or above a certain temperature due to an abnormality of the protein product that affects its stability

Genetic Complementation

1. The observation of a wild-type phenotype in an organism or cell containing two different mutations



2. The cross of two pure-breeding mutants that yields progeny that are exclusively wild-type

Dominant Epistatis

Interaction of two genes that control a trait in which a dominant allele of one gene masks or reduces the expression of alleles of a second gene

Penetrant

Expression of the phenotype corresponding to a particular genotype