Contents

C H A P T E R

5
Quantitative
Genetics
(Inheritance of Multiple Genes)

A field of pumpkins, where size

is under polygenic control.

he phenotypic traits of the different organisms may be of

two kinds, viz., qualitative and quantitative. The quali
tative traits are the classical Mendelian traits of kinds
such as form (e.g., round or wrinkled seeds of pea); structure
(e.g., horned or hornless condition in cattles) ; pigments (e.g.,black
or white coat of guinea pigs); and antigens and antibodies (e.g.,
blood group types of man) and so on. We have already discussed
in previous chapters that each qualitative trait may be under
genetic control of two or many alleles of a single gene with little
or no environmental modifications to obscure the gene effects.
The organisms possessing qualitative traits have distinct (separate) phenotypic classes and are said to exhibit discontinuous
variations. The quantitative traits, however, are economically important measurable phenotypic traits of degree such as
height, weight, shape, skin pigmentation, metabolic activity,
reproductive rate, behaviour, eye-facet or bristle number in
Drosophila, susceptibility to pathological diseases or intelligence in man; amount of flowers, fruits, seeds, milk, meat or egg
produced by plants or animals, etc. Economically important
traits such as body weight gains, mature plant heights, egg or
milk production records, yield of grain per acre, etc., are also
quantitative traits. The quantitative traits are also called metric
traits. They do not show clear cut differences between individuals and forms a spectrum of phenotypes which blend
imperceptively from one type to another to cause continuous
variations.

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In contrast to qualitative traits, the

quantitative traits may be modified variously by the environmental conditions
and are usually governed by many factors or genes (perhaps 10 or 100 or
more), each contributing such a small
amount of phenotype that their individual effects cannot be detected by
Mendelian methods but by only statistical methods. Such genes which are nonallelic and affect the phenotype of a
Height in humans is under polygenic control.
single quantitative trait, are called polygenes or cumulative genes. The inheritance of polygenes or quantitative traits is called quantitative
inheritance, multiple factor inheritance, multiple gene inheritance or polygenic inheritance.

Multiple Factor Hypothesis

Two or more different pairs of alleles, with presumed cumulative effects, govern the quantitative
traits. Those alleles which contribute to the trait involved are called contributing, effective or active
alleles; those alleles which do not appear to do so are referred to as non-contributing, non-effective
or null alleles. A gene, individually exerting a slight effect on the phenotype but along with a few or
many other genes, controls a quantitative trait is called a polygene (a term coined by K. Mather). Since
there are usually many genes of this kind for one quantitative trait, they are named multiple factors,
each factor having too small an effect to be traced. This multiple factor hypothesis (i.e., large number
of genes, each with a small effect, are segregating to produce quantitative variation) has long been the
basic model of quantitative genetics.

Differences Between Quantitative and Qualitative Genetics

The genetical studies of qualitative and quantitative traits are called qualitative genetics and
quantitative genetics, respectively. The major differences between the two are following :

Table 5.1.

Differences between qualitative and quantitative traits or genetics.

Qualitative genetics

Quantitative genetics

1. Characters of kind.
2. Discontinuous variation; distinct
phenotypic classes.
3. Single gene effects.

1.
2.

4. Concerned with individual matings and

their progeny.
5. Analyzed by making counts and ratios

4.

3.

5.

Characters of degree.
Continuous variations; phenotypic measurements form a spectrum.
Polygenic control; effects of single genes
too slight to be detected.
Concerned with population of organisms
consisting of all possible kinds of matings.
Statistical analyses give estimates of
population parameters such as the mean
and standard deviation.

HISTORICAL
In 1760, Joseph Kolreuter inadvertently reported first case of continuous variation due to
quantitative trait. He crossed the tall and dwarf varieties of tobacco, Nicotiana. The F1 plants were
intermediate in size between the two parent varieties. The F2 progeny showed a continuous gradation
from the size of the dwarf to that of the tall parent. Since the basic principles of genetics were yet not

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65

established then, these results could not be explained by

Kolreuter. In post-mendelian era, there were two main
groups of geneticists : 1. Mendelians, who believed
that all evolutionary important heritable differences
were qualitative and discontinuous (e.g., Bateson and
de Vries). 2. Biometricians, who proposed that heritable variation was basically quantitative and continuous and that genes did not exist as separate units (e.g.,
Galton). Later on, it was resolved that both of these
views were only partly correct. To prove that mendelians
and biometricians were only partly correct, Johannsen
(1903) used the character of seed weight in beans and
analysed its breeding behaviour. He proved that continuous variation are heritable, but he could not explain
genetics of the quantitative traits. It was Yule (1906)
who suggested that quantitative variation may be controlled by large number of individual genes, each having a small effect. H. Nilsson-Ehle (1908), East (1910)
and C.B. Davenport (1913) demonstrated segregation
and independent assortment of genes controlling quantitative traits such as kernel colour in wheat, corolla
length in tobacco and skin colour in negro and white
population of USA, respectively.

CHARACTERISTICS OF MULTIPLE GENES

Multiple genes for quantitative traits have following characteristics :
1. Each contributing allele in the series of multiple genes produces an equal effect.
2. Effects of each contributing allele are cumulative or additive.
3. There is no dominance, rather, there exist
pairs of contributing and non-contributing alleles.
4. There is no epistasis (masking of the phenotypes) among genes at different loci.
5. There is no linkage involved.
6. The environmental conditions have considerable effect on the phenotypic expression of poly- genes
for the quantitative traits. The genotype determines the
range an individual will occupy with regard to a given
quantitative character; environment determines the
point within the genetically determined range at which
an individuals measurements will fall.

EXAMPLES OF QUANTITATIVE
INHERITANCE
1. Kernel Colour in Wheat
A whole grain or seed of a cereal plant such as

Histograms showing the relative frequency of

individuals expressing height phenotypes derived
from Kolreuter's cross between dwarf and tall
tobacco plants carried to the F2 generation. The
photograph shows a tobacco plant.

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corn, wheat, barley, etc., is called kernel. Kernel colour in wheat is a quantitative trait and its
inheritance was studied by Swedish geneticist H. Nilsson Ehle for the first time in 1908. When he
crossed a certain red strain to a white strain, he observed that the F1 was all light red and that
approximately 1/16 of the F2 was as extreme as the parents, i.e., 1/16 was white and 1/16 was red. He
interpreted these results in terms of two genes, each with a pair of alleles exhibiting cumulative effect
(Fig. 5.1).
P:
Red kernel

White kernel
R1 R1 R2 R2
r1 r1 r2 r2
F1 :
Light red
R1 r1 R2 r2
F2 : Summary of checker board derived results, i.e., F2 genotypic and phenotypic ratios:
Genotype

Genotypic
ratio

R1 R1 R2 R2

R1 R1 R2 r2
R1 r1 R2 R2

2
2

R1 r1 R2 r2
R1 R1 r2 r2
r1 r1 R2 R2

4
1
1

R1 r1 r2 r2
r1 r1 R2 r2

2
2

r1 r1 r2 r2
Fig. 5.1.

Number of
contributing alleles

Phenotype

Phenotypic
ratio

Red

Medium red

Light red

Very light red

White

Coloured
(15/16)

Colourless
(1/16)

Results of a cross between two varieties of wheat having red kernel and white kernel
showing cumulative effect of alleles.

Each of the contributing alleles R1 or R2 adds some red to the phenotype of kernel colour, so that
the genotypes of whites contain neither of these alleles and a red genotype contains only R1 and R2
alleles. These results are plotted as histograms in Fig. 5.2. Here five phenotypic classes are obtained
in F2; each dose of a contributing allele for pigment production increases depth of colour. At this stage
one point should be clear that in case there were two genes involved, there would be obtained 15 : 1
ratio (15 coloured : 1) (see Fig. 5.1).
Later on, when certain other strains of
wheat with dark red kernels were crossed with
P
1
whites exhibited an F1 phenotype intermediate
between the two parental types, but only
Dark red
1/64 of the F2 are white. In this case the F1 is
Red
probably segregating for three pairs of genes
Medium red and only the genotype r1r1 r2r2 r3r3 produce
F1
white. There are seven classes of phenotypes in
Light red
a ratio of 1 : 6 : 15 : 20 : 15 : 6 : 1.
Above described ratios, i.e., 1 : 4 : 6 : 4 :
White
1 and 1 : 6 : 15 : 20 : 15 : 6 : 1, can be easily
obtained by the expansion of binomial equation
F
2
(1/2+1/2)n , where n is the number of alleles. In
Fig. 5.2. Wheat colour as an example
case of 2 genes, n=4, while in case of 3 genes
of a quantitative trait (after
n=6. This expansion can be obtained by the use
Stansfield, 1969).
of Pascals triangle (see Table 5-2).

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E.M. East (1913) extended the polygenic hypothesis to several cases in plants. For instance, in
case of maize it was demonstrated that the ear size is controlled by multiple factors. Similarly, flower
size in tobacco had the same pattern of inheritance. In these cases, the number of genes controlling the
character were many and usually more than two or three.

Table 5.2.

Expansion of binomial (1/2+1/2)n using different values of n (number of alleles) with the
help of Pascals triangle.
Expansion of binomial (1/2+1/2)n

Number of alleles
1
2
3
4
5
6
7
8

1:1
1:2:1
1:3:3:1
1:4:6:4:1
1 : 5 : 10 : 10 : 5 : 1
1 : 6 : 15 : 20 : 15 : 6 : 1
1 : 7 : 21 : 35 : 35 : 21 : 7 : 1
1 : 8 : 28 : 56 : 70 : 56 : 28 : 8 : 1

2. Skin Colour in Man

Another classical example of polygenic inheritance was given by Davenport (1913) in Jamaica.
He found that two pairs of genes, A-a and B-b cause the difference in skin
pigmentation
between negro
and caucasian
people. These
genes were
found to affect
the character in
additive fashion. Thus, a true
Flowers of a
negro has four
tobacco
plant.
dominant
genes, AABB,
and a white has four recessive genes
aabb. The F1 offspring of mating of
aabb with AABB, are all AaBb and
have an intermediate skin colour
termed mulatto. A mating of two
such mulattoes produces a wide variHuman skin colour is a result of polygenic inheritance.
ety of skin colour in the offspring,
ranging from skins as dark as the
original negro parent to as white as
the original white parent. The result of this cross have been shown in Figure 5.3. The F2 phenotypic
and genotypic ratios have been tabulated in Table 5-3.
P1 :

AABB
Negro

aabb
White

AB

ab

P1 gametes :
F1 :
Intercross :

AaBb
Mulattoes
Intermediate skin colour
Aa Bb
Mulattoes

AaBb
Mulattoes

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&

AB

Ab

AABB
Like negro

AB

AABb

AABb
AaBB
Darker than mulattoes Darker than mulattoes

ab
AaBb
Like mulattoes

AAbb

AaBb

Ab Darker than mulattoes

Like mulattoes

Like mulattoes

Lighter than mulattoes

AaBb
aB Darker than mulattoes

AaBb
Like mulattoes

aaBB
Like mulattoes

aaBb
Lighter than mulattoes

ab

AaBb
Like mulattoes
Negro
colour
(1/16)

F2 :
Fig. 5.3.

aB

Aabb

Aabb
aaBb
Lighter than mulattoes Lighter than mulattoes

Colour between
mulattoes and negro
(4/16)

Colour of
mulattoes
(6/16)

Colour between
mulattoes and white
(4/16)

aabb
Like white
White skin
colour
(1/16)

Checkerbord exhibiting segregation of skin colour in F2 generation from a marriage between a

negro and a white person.

Table 5.3.

Phenotypic and genotypic ratios of F2 generation of cross shown in Figure 5.3.

Phenotypes

Genotypes

Genotypic Frequency

Ratio

Black (Negro)
Dark

AABB
Aa BB,
AA Bb

1
2
2

1
4

Intermediate (Mulatto)

Aa Bb
aa BB
AA bb

4
1
1

Light

Aa bb
aa Bb
aa bb

2
2
1

White

These results are clearly showing that A and B genes produce about the same amount of
darkening of the skin and, therefore, the increase or decrease of A and B genes cause variable
phenotypes in F2 in the ratio of 1 Negro : 4 dark : 6 intermediate : 4 light : 1 white.
Other examples of quantitative traits of human beings include height, intelligence (I.Q.), hair
colour (except for red versus non-red) and eye colour.

3. Eye Colour in Man

In human beings, the colour of eye is found to be determined by polygenes. These genes have
been suggested by polygenes. These genes have been suggested to be X-linked (see Burns and Battino,
1989). At least 9 classes of eye colour can be recognized in humans. In order of increasing amount of
melanin pigmentation, these eye colours can be designated as light blue, medium blue, dark blue, grey,
green, hazel, light brown, medium brown and dark brown. The number of contributing alleles for these
colours have been tabulated in Table 5-4.

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Table 5.4.

69

Number of contributing alleles for each type of eye colour of human beings (Source :
Burns and Bottino, 1989).

Number of contributing alleles

Eye colour

0
1
2
3
4
5
6
7
8

Light blue
Medium blue
Dark blue
Grey
Green
Hazel
Light brown
Medium brown
Dark brown

Different eye colours found in human beings.

TRANSGRESSIVE VARIATION
In some types of quantitative inheritances, sometimes, F2 offsprings do not display continuous
variation but some individuals exhibit great degree of variability and do not resemble with their either
parent or even remote ancestors in that quantitative trait. Such a case in which the extremes of F2 exceed
those of the parent is called transgressive variation.
Example. Punnett and Bailey (1914, 1923) have reported first case of transgressive variation
from a cross in between a large Golden Hamburg chicken with the smaller Sebright Bantam variety of
chicken. The F1 was intermediate in size between the parents and fairly uniform, but mean size of the
F2 was about the same as that of the F1, but the variability of the F2 was so great that a few individuals
were found to exceed the size of either parental type (showing transgressive variation). In this case, four
gene loci are thought to cause the transgressive variation as follows :
P:

aa BB CC DD
Large Golden
Hamburg chicken
(6 contributing
alleles)

AA bb cc dd
Small Sebright
Bantam chicken
(2 contributing allele)

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F1 :

Aa Bb Cc Dd
Intermediate sized hybrid
(4 contributing allele)
F2 : Some genotypes could segregate out in the F2 with phenotypic values which exceed that
of the parents. For example :
AA BB CC DD
8 Contributing alleles
Larger than Golden Hamburg
Aa BB CC DD
7
,,
,,
Aa bb cc dd
aa bb cc dd

1
0

,,
,,
No contributing allele
(physiological minimum)

}
}

Smaller than Sebright Bantams

MODIFIERS OR MODIFYING GENES

The inheritance of certain traits is governed by a single pair of genes which determines the
presence or absence of the trait plus a number of multiple genes which determine the extent of the trait.
Thus, modifier is a gene that affects the expression of another nonallelic gene.
Example. In mice pie bald spotting pattern (or white spotting) of coat is governed by
homozygous recessive alleles ss. Dominant allele S determines solid coat colour (or presence or
absence of spots). Mice with ss genotype show variation in spotting patternwhite spots in some are
present only on the belly, ranging to those with an entirely white coat with many intermediates. A cross
between two animals differing in spot pattern produces F1 individuals which are intermediate between
the two parents. F2 progeny shows variations with some parental types and some intermediates. The
back cross of an F1 with parental types with a frequency that is suggestive of three or four polygenes
influencing the trait. The appearance of different patterns is the result of polygenes (multiple factors
called minor genes, see Sarin, 1985) interacting with each other or having additive effects and also
interacting with pie bald genes ss (called major genes). Thus, the polygenes s1s1, s2 s2, s3 s3, sn sn, each
with small expression interact and exert their action by changing the magnitude of a major gene pair
ss. The minor genes (e.g., s1 s1, s2 s2, s3 s3, sn sn) which modify the effect of a major gene pair ss are
called modifiers.

SIGNIFICANCE OF QUANTITATIVE GENETICS

Quantitative genetics has great agricultural importance and has helped in the increase of yield
of various economically important crops.

REVISION QUESTIONS AND PROBLEMS

1.

2.
3.
4.

(a)
(b)

Are quantitative characters restricted to sexually reproducing organism ?

Define the multiple-gene hypothesis. Evaluate its practical and theoretical significance and
describe some of its limitations.
(c)
Describe briefly the evidence supporting the multiple-gene hypothesis.
(d)
Discuss the statement : No new principles of genetics have originated from the study of
quantitative characters.
(e)
Why is it more different to study the inheritance of quantitative characters such as size,
weight, and intelligence than qualitative ones such as ABO and Rh blood antigens ?
Distinguish between the term polygene and modifying gene. What have the two kinds of genes in
common.
Describe the kinds of observations that would lead you to suspect that a certain human character was
controlled by polygenes.
Which of the following human phenotypes would appear to be based on polygene inheritance :
intelligence, absence of incisors, height, phenylketonuria, ability to taste phenylthiocarbamide, skin
colour, cryptophthalmos (i.e., failure of eyelids to separate in embryonic development), eye
colour ?

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6.

7.

71

Show, by means of appropriate genotypes, how parents may have children taller than themselves.
Skin colour in man is controlled by additive genes : If both mother and father have intermediate skin
colour, can you expect children (i) with lighter skin, (ii) with darker skin ? Can you expect children
with darker skin, if both parents have light skin ?
Two homozygous varieties of Nicotiana longiflora have mean corolla lengths of 40.5 mm and 93.3
mm. The average of the F1 hybrids form these two varieties was of intermediate length. Among 444
F2 plants, none was found to have flowers either as long or as short as the average of the parental
varieties. Estimate the minimal number of pairs of alleles segregating from the F1.

ANSWERS TO PROBLEMS
4.
5.

7.

All traits showing practically continuous variation are likely to be due to polygenes. Here, the traits
of intelligence, height, skin colour, and eye colour probably involve polygenes.
Any parental genotypes that can produce at least some progeny with a greater number of contributing
alleles than they themselves have are possible, for example, Aa Bb Cc Dd Aa Bb Cc Dd, Aa Bb
Cc Dd aa bb Cc Dd, etc.
If four pairs of alleles were segregating from the F1, we expect (1/4)4 = 1/256 of the F2 to be as extreme
as one of the other parental average. Likewise, if five pairs of alleles were segregating, we expect
(1/4)5 = 1/1024 of the F2 to be as extreme as one parent or the other. Since none of the 444 F2 plants
had flowers this extreme, more than four loci (minimum of five loci) are probably segregating from
the F1.