Exam 3: Quantitative Genetics and Complex Disease I Flashcards
quantitative genetics
deals with phenotypes that vary continuously (e.g characters such as height or mass) -as opposed to discreetly identifiable phenotypes and gene products (such as bristle number in flies, or presence of a particular biochemical)
discontinuous (qualitative) traits
posses only a few phenotypes (e.g. red or white petals)
continuous (quantitative) traits
characteristics vary along a scale of measurement with many overlapping phenotypes (ranges from a low to a high and everything in between)
GWAS
a genome-wide association study is an examination of many common genetic variants in different individuals to see if any variant is associated (co-segregates) with a trait
DGAT1-2
single gene with a big impact; catalyzes the final step of oil synthesis
polygenic inheritance
occurs when one characteristic is controlled by 2 or more genes. often genes are large in quantity but small in effect. (ex height, skin color, and weight) many genes contribute to a phenotypic outcome
all of the traits Mendel studied were
discontinuous
what would have happened if Mendel studied traits with a continuous phenotypes?
mendel would not have been able to come to the mathematical conclusions that he did; results would have been difficult to interpret
t/f: in the real world, rare that alleles have an equal contribution
true
t/f: if we are trying to understand the genotype of a particular phenotype, each can have a different genotype but still same phenotype
true; for a quantitative characteristic, each genotype may produce a range of possible phenotypes
quantitative characteristics (5)
- exhibit complex relationships btwn genotype and phenotype
- are likely polygenic
- may have important environmental influences
- phenotypic ranges may overlap
- cannot use standard methods to analyze
height is a continuous variable and factors that regulate height is
very complicated; lots and lots of small contributions from multiple genetic variants
types of quantitative characteristics (2)
- meristic characteristics
2. threshold characteristics
meristic characteristics
- determined by multiple genetic and environmental factors, and can be measured in whole #s
- animal litter size
threshold characteristics
- measured by presence or absence
- susceptibility to disease
threshold characteristics display
only 2 possible phenotypes (the trait is either present or absent) but they are quantitative bc the underlying susceptibility to the characteristic varies continuously
when the susceptibility exceeds a threshold value:
the characteristic is expressed
susceptibility to disease
threshold characteristics (mild response to a disease to having all the symptoms) a certain combination of genes can exceed a threshold and make you senstive to disease
the danger of exceeding a threshold
as you accumulate genetic variants, you accumulate genes that make you more susceptible to disease
polygenic inheritance
- refers to quantitative characteristics controlled by cumulative effects of many genes
- each character still follows Mendel’s rules
- may be influenced by environmental factors
as the number of loci affecting the trait increases,
the number of phenotypic classes increases