Complex Genetics: Multi-Gene Interaction Flashcards
Expressivity
Differing levels of transcription/translation change the trait (severity of disease)
Quantitative trait loci
number of copies of a gene in part determine phenotype
pleiotropy
A single gene determining several distinct and unseemingly unrelated characteristics. One gene influences multiple phenotypes.
Example: Aboriginal men have respiratory problems and are sterile. This is due to the defects in ONE GENE, but it AFFECTED MULTIPLE PHENOTYPES
Sickle Cell Facts
Those with the sickle cell carrier are less likely to get malaria but those who ACTUALLY have sickle cell have A LOW LOW CHANCE OF SURVIVAL
List 4 reasons why phenotypic variation for some traits can occur
- differences in penetrance or expressivity
- effects of modifier genes
- effects of environment
- pure chance
How does environment affect a phenotype?
Because certain alleles are temperature sensitive
Example:
Siamese cats get darker when it’s colder because their colorless precursor enzyme is functional. However, it can function and thrive in hotter temperature so the cat looks lighter
Are these environmental phenotypes heritable?
No, phenotypes arising from an environmental agent mimic the effects of a mutant gene. And these can be harmful or beneficial to a person
Does environment just have to be temperature?
NO. Other examples include if you have a genetic predisposition to lung cancer you’re strongly affected by cigarette smoking or if you have a strong predisposition to cardiovascular disease you can be influenced by diet and exercise
Penetrance is the percentage of a population with…
a particular genotype that shows the expected phenotype
Can have complete or incomplete penetrance
Expressivity is the degree or intensity…
with which a particular genotype is expressed in a phenotype
Can be variable or unvarying
Variable penetrance
you either have it or ya don’t have the phenotype expression. yes or no
Variable expressivity
everyone has some of the trait, it’s just expressed to different extents
Variable penetrance and expressivity
some people won’t have the trait, some people it’ll be very severe and others very mild
Incomplete penetrance
Some individuals do not express the phenotype even though they inherit the alleles
Discontinuous traits
give clear cut, ‘either-or’ phenotypic differences between alternative alleles
Example: all of the traits Mendel studied in peas were discontinuous