WCSU Quantitative Genetics Polygenic Inheritance Lab 9 Calculation Questions Homework assignment is on page 6. Please complete all parts of the questions.
Any calculations must be submitted with the final assignment back to me.
You must calculate a t-test, mean, variance, and regression coefficient for both data set of height and total ridge. all calculates must be typed out. Formulas are included in the packet.
This assignment includes making a graph on excel, please read requirements on page 5. two graphs have to be made one for height and the other for total ridge. you must calculate heritability and type your calculations.
Last part of the paper requires finding a scientific paper on heritability. Again please refer to page 5 for all requirements and questions that have to be answered. you must attach the paper of your choosing and submit back to be.
Please submit:
All typed calculations. please separate each calculation with a heading. one page should be for all height calculations and another page for total ridge count.
All of question 1.
All of question 2. *** you have to repeat this question twice. I should have to graphs.
All of question 3. answer question and include paper in submission. LABORATORY 9 (week 11)
Quantitative Genetics – Polygenic inheritance
Introduction
Qualitative vs. Quantitative Traits
Up until now, we have been exploring the inheritance of Mendelian traits,
traits that are affected by one or a few genes. These classical Mendelian traits have
been qualitative in nature, i.e. traits which are easily classified into distinct
phenotypic categories. These discrete phenotypes are under the genetic control of
only one or a very few genes with little or no environmental effects, which might
obscure the genetic effects. In contrast to this, the variability exhibited by many
biologically important traits does not fit into separate phenotypic classes
(discontinuous variability), but instead forms a spectrum of phenotypes which
blend imperceptivity from one type to another (continuous variability).
Economically important traits such as body weight, plant height, egg or milk
production, yield of grain per acre, etc, are quantitative traits with continuous
variability. The basic biological difference between qualitative and quantitative
traits involves the number of genes contributing to the phenotypic variability and
the degree to which the phenotype can be modified by environmental factors. See
Table 1 for some of the major differences between quantitative and qualitative
traits.
1.
2.
3.
4.
5.
Table 1: Major differences between qualitative and quantitative traits
Qualitative Traits
Quantitative Traits
Characters of kind
1.
Characters of degree
Discontinuous variation; discrete 2.
Continuous variation; phenotypic
phenotypic classes
measurements form a spectrum
Single gene affects discernible
3.
Polygenic control; effects of single
Concerned with individual
genes too sight to be detected
matings and their progeny
4.
Concerned with a populations of
Analyzed by making counts and
organisms consisting of all
ratios
possible kinds of matings
5.
Statistical analyses give estimates
of population parameters such as
mean and standard deviation
Quantitative traits may be governed by many genes (perhaps 10-‐100 or
more), each contributing a small amount to the phenotype so that their individual
effects cannot be detected by Mendelian methods. The alleles at each gene locus lack
dominance, and each active allele has an effect on the phenotype that is small and
equal to that of each of the other alleles affecting the trait. These alleles are often
called additive because their effects on phenotype can be added up. Phenotype is
determined by the sum of all the active alleles present in the individual. However,
the genes that contribute to continuous traits (or polygenes) are not qualitatively
different from other genes, they regulate the production of polypeptides and they
segregate and independently assort according to Mendelian principles. Their
inheritance only seems different because they work together to affect one trait.
Statistics have been developed describe and test hypotheses regarding
quantitative traits (what kind of statistics did we used for qualitative traits?). In
1
LABORATORY 9 (week 11)
Quantitative Genetics – Polygenic inheritance
particular, populations can be described by the mean trait value as well as the
variance around that mean (see page 7 for equations). Once we know these two
descriptive statistics about populations, we can test the hypotheses that two
populations have the same mean trait value, using a test called a t-‐test. T-‐tests were
invented to monitor the quality of Guinness stout, so drink up! I mean, enjoy testing
the differences between two populations?
Heritability
Quantitative traits are not all t-‐tests and beer, however. There is more to
learn about them. The phenotypic variability expressed in most quantitative traits
Table!1.!Fingerprint!data!that!may!be!strongly!suggestive!of!a!diagnosis!for!
has
a relatively large environmental component, and a correspondingly small
Chromosome!anomalies.!
genetic
component. It is the task of the geneticist to determine the magnitude of the
!
genetic and environmental components of the total phenotypic variability of each
Trisomy!21:!trait in a population. The proportion of the phenotypic variability in a
quantitative
Fingers*primarily*ulnar*loops:*radial*loops*on*fingers*4*and*5.*
quantitative
trait that is due to genetic influences is called the heritability.
*
There
Trisomy!18:!are multiple ways to estimate heritability. Today we will be estimating
heritability
by comparing the values of the quantitative trait in parents to the values
Underdeveloped*epidermal*ridges;*high*frequency*of*arches*(average*7[8;*without*
in at*least*one*arch,*the*diagnosis*is*suspect);*thumbs*lacking*arches*have*radial*loops;*
their offspring. We will do this by calculating a regression coefficient for the
low*TRC.* between parental trait values and offspring trait values. The regression
relationship
*
coefficient
is the slope of the best-‐fit line between the x and y values.
Turner!Syndrome!45,!X:!
The way that heritability is calculated from the regression coefficient
Increased*TRC*with*no*increase*in*whorls.*
depends
on the data that are available. If measurements for both parents are
*
available,
the average of the two values is plotted on the x-‐axis. This parental
Relationship!between!average!TRC!and!the!number!of!X!and!Y!Chromosomes!
average
i
s
called the midparent value. T47,*XYY*–*103*
he offspring traits are plotted on the x-‐axis.
45,*X*–*165*
We
expect that the midparent value will 48,*XXYY*–*88*
be a good predictor of offspring values.
46,*XY*–*145*
This
i
s
b
ecause
o
ffspring,
o
n
a
verage,
w
ill
exhibit a trait value that is the average of
46,*XX*–*126*
48,*XYYY*–*83*
47,*XXY*–*114*
their
parents. In this case, heritability 49,*XXXXX*–*17*(only*two*individuals*
is simply the regression coefficient
examined)*
between offspring values and midparent
values. If, however, data are only
*
available for one parent, heritability is estimated as 2*regression coefficient.
* is because we expect the data from one parent to do a worse job predicting
This
*
offspring values. How much worse? Exactly twice as bad.
*
*
*
*
*
!
!!!!A:!Arch! !
!
!
!!!!!B:!Loop! !
!
!!!!!!!!!!!C:!Whorl!
*
Figure*1.*Examples*of*some*fingerprint*patterns*and*the*TRC*for*each*example.*A:*
arch*with*no*tri[radius*and*ridge*count*of*0;*B:*loop*with*one*tri[radius*and*a*ridge*
count*of*12;*C:*whorl*with*two*tri[radii*and*a*ridge*count*of*15*(the*higher*of*the*two*
possible*counts)*
*
II.(Classification(of(Prints(
(
*
*
Fingerprint*patterns*of*dermal*ridges*can*be*classified*into*three*major*
groups:*arches,*loops,*and*whorls*(see*Figure*1.).*The*arch!is*the*simplest*and*least*
frequent*pattern.*It*may*be*subclassified*as*“plain”*when*the*ridges*rise*slightly*over*
the*middle*of*the*finger*or*“tented”*when*the*ridges*rise*to*a*point.*
2
LABORATORY 9 (week 11)
Quantitative Genetics – Polygenic inheritance
Today we will be using statistics to study two quantitative traits, total ridge
count and height. Height needs little introduction, but total ridge count does. In
1890, Francis Galton suggested fingerprints as a useful tool in personal
identification. One of the features of a fingerprint is the total ridge count. The
formation of the epidermal ridge pattern and the total ridge count are polygenic, but
they are also influenced by environmental factors. The embryology of epidermal
ridges offers clues to prenatal environmental influence on their pattern of
development. Fetal fingertip pads are observable around the sixth week of gestation
and reach their maximal size by week 12 or 13, after which they regress, giving rise
to elevated dermal ridges. The ridges, once formed, are very resistant to later
prenatal or postnatal influences, making them an ideal trait for genetic studies as
well as for identification of individuals.
Classification of Finger Prints
Fingerprint patterns of dermal ridges can be classified into three major
groups: arches, loops, and whorls (see Figure 1). The arch is the simplest and least
frequent pattern. It may be subclassified as “plain” when the ridges rise slightly over
the middle of the finger or “tented” when the ridges rise to a point.
The loop pattern has a triradius and a core. A triradius is a point at which
three groups of ridges coming from three directions, meet at angles of about 120
degrees. The core is essentially a ridge that is surrounded by fields of ridges, which
turn back on themselves at 180 degrees. Loops can be either radial or ulnar. A finger
possesses a radial loop if its triradius is on the side of the little finger for the hand in
question and the loop opens toward the thumb. A finger has an ulnar loop if its
triradius is on the thumb-‐side of that hand and the loop opens toward the little
finger. The whorl pattern has two tridaii, with the ridges forming various patterns
inside. The frequencies of these fingerprint pattern types in the general population
are as follows: arch, 5.0%; radial loop. 5.4%; ulnar loop, 63.5%; and whorl, 26.1%.
Ridge Count
The focus of this investigation is the polygenic or quantitative trait called the
total ridge count (TRC), the sum of the ridge counts for all 10 fingers. Ridge counts
are the number of ridges between a tri-‐radius of a fingerprint and the center of the
loop or whirl. The average TRC for males is 145 and that for females is 126. For an
arch, the ridge count is 0. The ridge count on a finger with a loop is determined by
counting the number of ridges between the triradius and the center of the pattern.
For a whorl, a ridge count is higher of the ridge counts from the two triradius to the
center of the fingerprint (Figure 1.).
Once everyone has prepared their own fingerprints (see section V) and
determined their own TRCs and individual fingerprint patterns, we will examine
how the TRC data support a polygenic model of inheritance.
Upon completing today’s lab, you should be able to classify fingerprints into
arches, radial and ulnar loops, and whorls, construct histograms, use t-‐tests to test
hypotheses
3
LABORATORY 9 (week 11)
Quantitative Genetics – Polygenic inheritance
Methods:
Class TRC Data Collection
1. Rub a no. 2 pencil on an index card to make a blackened square about 3 cm.
2. Rub one of your fingers on the graphite square, making certain that you cover all
the triradii on the finger. Carefully place a piece of transparent tape on the
graphite covered finger so that the tape comes in contact with the entire portion
of the finger that you want to print. Roll the finger across the tape in one smooth
motion. Peel away the tape, and affix it to the appropriate place on your record
sheet (Table 1).
3. Repeat this process, preparing a print for each of your 10 fingers.
4. Examine each print carefully; if a print is incomplete, prepare a new one. Use the
dissecting scope to help classify the pattern and determine the ridge count for
each print.
5. Write your total ridge count and sex in the table on the chalkboard, as directed by
Dr. Prunier. Record all of the class data.
Analysis
6. Use the class data to construct a histogram in which frequencies (number of
individuals) are plotted against TRC.
7. Calculate the mean and variance for TRC for males and females separately
8. Use a t-‐test to test the null hypothesis that males and females do not differ in total
ridge count
Class Height Data Collection
1. Remove your shoes and have your partner measure your height to the nearest .5
cm.
2. Record both heights and sexes on the board.
3. When all of the section’s heights are on the board, record all of the individual
heights and sexes.
Analysis
1. Draw a section histogram for male and female heights. Bin by 10 cm increments
2. Calculate the mean and variance for height for males and females separately
3. Do a t-‐test to determine whether males and females differ significantly in height.
Heritability: Triradius count and Height
1. You are provided with TRC and height data from parents and offspring
2. Calculate the regression coefficients for each set of data
3. Use this to calculate the heritability of these two traits (see bolded section on
page 2)
4
LABORATORY 9 (week 11)
Quantitative Genetics – Polygenic inheritance
Homework (10 pts)
1. Turn in the t-‐test results for the cla…
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