EXPERIMENT NO. Date – 26.10.

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Aim:
To study a representative quantitative trait using statistical analysis.

Theory:
Quantitative traits are influenced by many genes, called polygenes, each one of which
contributes a small amount to the variation of a character. Continuous variation across a
range of phenotypes is measured and described in quantitative terms, so this genetic
phenomenon is known as Quantitative Inheritance.

There are three types of quantitative traits given by Hartl and Clark in 1989:
• Meristic Traits: in which the phenotype is expressed in discrete, integral classes.
Examples: include litter size or number of seeds produced per individual, number of
flower parts, and kernel colour in wheat.
• Continuous Traits: in which there is a continuum of possible phenotypes. Examples:
include height, weight, oil content, milk yield and human skin colour. In practice, similar
phenotypes are often grouped together into classes for the purposes of analysis.
• Discrete Traits: in which an individual either does or does not express the characteristic.

Multiple genetic and environmental factors combine to determine the risk or liability of
expressing the trait. It is assumed that the liability has to be greater than some threshold
before the trait is expressed. Examples: diabetes and schizophrenia in humans.

Threshold traits are polygenic (and frequently multifactorial), but they are distinguished
from continuous and meristic traits by having a small number of discrete phenotypic classes.
Threshold traits are currently of heightened interest to human geneticists because an
increasing number of diseases are now thought to show this pattern of polygenic inheritance.

Additive Alleles Form the Basis of Continuous Variation

The multiple-gene hypothesis consists of the following major points:
1. Phenotypic traits showing continuous variation can be quantified by measuring,
weighing, counting, and so on.
2. Two or more gene loci, often scattered throughout the genome, account for the hereditary
influence on the phenotype in an additive way. Because many genes may be involved,
inheritance of this type is called polygenic.
3. Each gene locus may be occupied by either an additive allele, which contributes a
constant amount to the phenotype, or a nonadditive allele, which does not contribute
quantitatively to the phenotype.
4. The contribution to the phenotype of each additive allele, though often small, is
approximately equal. While we now know this is not always true, we have made this
assumption in the above discussion.

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5. Together, the additive alleles contributing to a single quantitative character produce
substantial phenotypic variation.

Calculating the Number of Polygenes

Various formulas have been developed for estimating the number of polygenes, the genes
contributing to a quantitative trait. For example, if the ratio of F2 individuals resembling
either of the two extreme P1 phenotypes can be determined, the number of polygenes
involved (n) may be calculated as follows:

1/4n = ratio of F2 individuals expressing either extreme phenotype

In the example of the red and white wheat grain colour of the progeny are either red or white
like the P1 phenotypes. This ratio can be substituted on the right side of the equation to solve
for n:

1 /4n = 1/ 16
1 /42 = 1 /16
n=2

Following table lists the ratio and the number of F2 phenotypic classes produced in crosses
involving up to five gene pairs.

For low numbers of polygenes (n), it is sometimes easier to use the equation

(2n + 1) = the number of distinct phenotypic categories observed

For example, when there are two polygenes involved (n = 2), then (2n + 1) = 5 and each
phenotype is the result of 4, 3, 2, 1, or 0 additive alleles. If n = 3, 2n + 1 = 7 and each
phenotype is the result of 6, 5, 4, 3, 2, 1, or 0 additive alleles. Thus, working backwards with
this rule and knowing the number of phenotypes, one can calculate the number of polygenes
controlling them. It should be noted, however, that both of these simple methods for
estimating the number of polygenes involved in a quantitative trait assume not only that all

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the relevant alleles contribute equally and additively, but also that phenotypic expression in
the F2 is not affected significantly by environmental factors.

The Study of Polygenic Traits Relies on Statistical Analysis

The basic statistical tools are used for the task. It is not usually feasible to measure
expression of a polygenic trait in every individual in a population, so a random subset of
individuals is usually selected for measurement to provide a sample. The accuracy of the final
results of the measurements depends on whether the sample is truly random and
representative of the population from which it was drawn.
If the sample measured for expression of a quantitative trait is sufficiently large and also
representative of the population from which it is drawn, data form a normal distribution; that is,
they produce a characteristic bell-shaped curve when plotted as a frequency histogram .Several
statistical concepts are useful in the analysis of traits that exhibit a normal distribution,
including the mean, variance, standard deviation, standard error of the mean, and covariance.
Mean
The mean provides information about where the central point lies along a range of
measurements for a quantitative trait.

Normal frequency distribution is characterized by a bell shaped curve

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 This figure shows the distribution curves for two different sets of phenotypic
measurements. Each of these sets of measurements clusters around a central value (as it
happens, they both cluster around the same value). This clustering is called a central
tendency, and the central point is the mean. Specifically, the mean (X) is the arithmetic
average of a set of measurements and is calculated as:

where X is the mean, Xi represents the sum of all individual values in the sample, and n is the
number of individual values.

The mean provides a useful descriptive summary of the sample, but nothing about the
range or spread of the data. A symmetrical distribution of values in the sample may, in one
case, be clustered near the mean. Or a set of measurements may have the same mean but be
distributed more widely around it.

Variance
A second statistic, the variance, provides information about the spread of data around
the mean. The variance (s2) for a sample is the average squared distance of all measurements
from the mean. It is calculated as:

where the sum (Σ) of the squared differences between each measured value (Xi) and the mean
(X) is divided by one less than the total sample size n - 1.

The two sets of sample measurements for a quantitative trait may have the same mean
but a different distribution of values around it. This range will be reflected in different
variances. Estimation of variance can be useful in determining the degree of genetic control
of traits when the immediate environment also influences the phenotype.

Standard Deviation
As the variance is a squared value, its unit of measurement is also squared (m2, g2 ,
etc.). To express variation around the mean in the original units of measurement, square root
of the variance is used, a term called the standard deviation (s):

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The percentage of individual values within a normal distribution that fall within different
multiples of the standard deviation is shown in the table below. The values that fall within
one standard deviation to either side of the mean represent 68 percent of all values in the
sample. More than 95 percent of all values are found within two standard deviations to either
side of the mean. This means that the standard deviation s can also be interpreted in the form
of a probability. For example, a sample measurement picked at random has a 68 percent
probability of falling within the range of one standard deviation.

Analysis of a Quantitative Character

The mean value for the fruit weight in the F1 generation is calculated as:

The mean value for fruit weight in the F2 generation is calculated as:

The range of variation can be quantified as the sample variance s2, calculated as the sum of
the squared differences between each value and the mean, divided by one less than the total
number of observations.

The variance is found to be 1.29 for the F1 generation and 4.27 for the F2 generation. When
converted to the standard deviation, the values become 1.13 and 2.06, respectively.
Therefore, the distribution of tomato weight in the F1 generation can be described as 12.04 ±
1.13, and in the F2 generation it can be described as 12.11 ± 2.06.

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Assuming that both tomato varieties are homozygous at the loci of interest and that the alleles
controlling fruit weight act additively, we can estimate the number of polygenes involved in
this trait. Since 1/72 of the F2 offspring have a phenotype that overlaps one of the parental
strains (72 total F2 offspring; one weighs 6 oz, one weighs 18 oz), the use of the formula 1/4n
= 1/72 indicates that n is between 3 and 4, providing evidence of the number of genes that
control fruit weight in these tomato strains.

Answer the following:

Q.1 Write the F2 genotype in below mentioned table and on the basis of this results calculate
the genotypic frequency, additive alleles, and genotypic ratio.

Cross for SR Sr sR sr
F2
SR
Sr
sR
sr

Q.2 Analyze the given quantitative trait data using statistical method using the parameters
mean, variance and standard deviation.

Distribution of F1 and F2 progeny derived from theoretical back cross

Height (Ft)
5 6 7 8 9 10 11 12
No. of F1 1 6 3 10 17
Individuals F2 2 5 3 3 14 8 0 6

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Ans 1 –

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Ans 2-

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