Exam 3: Quantitative Genetics and Complex Disease I Flashcards

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1
Q

quantitative genetics

A

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)

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2
Q

discontinuous (qualitative) traits

A

posses only a few phenotypes (e.g. red or white petals)

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3
Q

continuous (quantitative) traits

A

characteristics vary along a scale of measurement with many overlapping phenotypes (ranges from a low to a high and everything in between)

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4
Q

GWAS

A

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

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5
Q

DGAT1-2

A

single gene with a big impact; catalyzes the final step of oil synthesis

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6
Q

polygenic inheritance

A

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

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7
Q

all of the traits Mendel studied were

A

discontinuous

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8
Q

what would have happened if Mendel studied traits with a continuous phenotypes?

A

mendel would not have been able to come to the mathematical conclusions that he did; results would have been difficult to interpret

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9
Q

t/f: in the real world, rare that alleles have an equal contribution

A

true

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10
Q

t/f: if we are trying to understand the genotype of a particular phenotype, each can have a different genotype but still same phenotype

A

true; for a quantitative characteristic, each genotype may produce a range of possible phenotypes

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11
Q

quantitative characteristics (5)

A
  1. exhibit complex relationships btwn genotype and phenotype
  2. are likely polygenic
  3. may have important environmental influences
  4. phenotypic ranges may overlap
  5. cannot use standard methods to analyze
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12
Q

height is a continuous variable and factors that regulate height is

A

very complicated; lots and lots of small contributions from multiple genetic variants

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13
Q

types of quantitative characteristics (2)

A
  1. meristic characteristics

2. threshold characteristics

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14
Q

meristic characteristics

A
  • determined by multiple genetic and environmental factors, and can be measured in whole #s
  • animal litter size
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15
Q

threshold characteristics

A
  • measured by presence or absence

- susceptibility to disease

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16
Q

threshold characteristics display

A

only 2 possible phenotypes (the trait is either present or absent) but they are quantitative bc the underlying susceptibility to the characteristic varies continuously

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17
Q

when the susceptibility exceeds a threshold value:

A

the characteristic is expressed

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18
Q

susceptibility to disease

A

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

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19
Q

the danger of exceeding a threshold

A

as you accumulate genetic variants, you accumulate genes that make you more susceptible to disease

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20
Q

polygenic inheritance

A
  • refers to quantitative characteristics controlled by cumulative effects of many genes
  • each character still follows Mendel’s rules
  • may be influenced by environmental factors
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21
Q

as the number of loci affecting the trait increases,

A

the number of phenotypic classes increases

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22
Q

distribution (2)

A
  • frequency distribution

- normal distribution: a symmetrical (bell-shaped) curve

23
Q

sample definition

A

a REPRESENTATIVE small collection of individuals from the population

24
Q

population definition

A

a group of individuals of interest

25
Q

what is a population

A

ALL MEMBERS OF A PARTICULAR GROUP (people who live to be 100 yrs old)

26
Q

what is a sample

A

A SUBSET OF THE POPULATION THAT SHOULD BE REPRESENTATIVE OF THE LARGER POPULATION

27
Q

how do we ensure that a sample set is representative of a population?

A

draw at random = truly representative of the population

28
Q

a frequency distribution is a graph that displays

A

the # or proportion of different phenotypes

29
Q

t/f: distributions of phenotypes can assume several different shapes

A

true

30
Q

a distribution with 2 peaks is

A

bimodal (probably reflects some environmental selection as seen in skewed distributions as well)

31
Q

mean

A

average of a set of values

32
Q

variance

A

the variability w/in a group of measurements

33
Q

standard deviation

A

the square root of the variance

34
Q

mean provides information about

A

the center of a distribution.

35
Q

variance provides information about

A

the variability of a group of phenotypes

36
Q

the variance =

A

the standard deviation squared (sd^2)

37
Q

1 SD =

2 SD =

A

1 SD = 66% of the sample

2 SD = 95% of the sample

38
Q

correlation

A

when 2 characteristics are correlated, a change in one characteristic is likely to be associated with a change in the other

39
Q

correlation coefficient (r)

A

a statistical measure of the strength of association

40
Q

what does correlation demonstrate?

A

CORRELATION DOES NOT DEMONSTRATE A CAUSE-AND-EFFECT RELATION. it simply means that a change in a variable is associated with a proportional change in the other variable

41
Q

the correlation coefficient describes the relation btwn

A

2 or more variables

42
Q

a perfect correlation will have a correlation coefficient of

A

1

43
Q

a negative coefficient indicates an

A

inverse relationship

44
Q

the greater the variance, the _

A

more spread out the distribution is about the mean (ex s^2=4.0)

45
Q

small standard error means

A

there is little variance (s^2=0.25)

46
Q

t/f: a correlation coefficient can be computed for a single variable measured for pairs of individuals

A

true

47
Q

regression

A

predicting the value of one variable, if the value of the other is given

48
Q

regression coefficient

A

represents the slope of the regression line, indicating how much one value changes on average per increase in the value of another variable

49
Q

a regression line defines the

A

relation btwn 2 variables; the regression line is the line that best fits all the points on the graph

50
Q

the regression coefficient represents the

A

slope of the regression line

51
Q

the regression coefficient, b, represents the

A

change in y per unit change in x

52
Q

when the regression coefficient is 1, a

A

1-unit increase in x is associated with a 1-unit increase in y

53
Q

when the regression coefficient is 0.2, a

A

1-unit increase in x is associated with a 0.2-unit increase in y