HANDOUT IN GENETICS

(QUANTITATIVE GENETICS)

Discontinuous Variation – discrete phenotypic categories exist.

Ex. Pea plants (tall or dwarf), squash shape (spherical, disc-shaped, or elongated), fruit-fly eye color (red
brown, scarlet, or white)

Continuous Variation – phenotypes that demonstrate more variation, and are not easily categorized into a
small number of distinct classes.

 Traits exhibiting continuous variation are often controlled by two or more genes that provide an
additive component to the phenotype. Such traits are examples of Quantitative or Polygenic
Inheritance.

Multiple-factor or Multiple-gene Hypothesis – implied that many factors or genes contribute to the
phenotype in a cumulative or quantitative way.

Additive Alleles: The Basis of Continuous Variation

1. Characters can be quantified by measuring, weighing, counting, and so on.

2. Two or more pairs of genes account for the hereditary influence on the phenotype in an additive way.
3. Each gene locus may be occupied by either an additive allele or by a non-additive allele.
4. The total effect of each additive allele at each locus, while small, is approximately equivalent to other
additive alleles at other gene sites.
5. Together, the genes controlling a single character produce substantial phenotypic variation.
6. Genetic variation is affected by environmental factors.

Ex. Despite their genetic basis, height and stature in humans is influenced by individual diets, plant
characters are influenced by factors such as rainfall, sunlight, and soil nutrients.

7. Analysis of polygenic traits requires the study of large numbers of individuals from a population of
organisms.

Determination of the number of gene pairs (n) involved in polygenic crosses

n Ratio of individuals Number of distinct F2

expressing an extreme phenotypic classes
phenotype
1 (Aa x Aa) 1/4 3
2 (AaBb x AaBb) 1/16 5
3 (AaBbCc x AaBbCc) 1/64 7
4 (AaBbCcDd x AaBbCcDd) 1/256 9
5 (AaBbCcDdEe x 1/1024 11
AaBbCcDdEe)
 When n = 2, 2n + 1 = 5; each phenotypic category can have 4, 3, 2, 1, or 0 additive alleles and so on.

Significance of Polygenic Control

1. It serves as a mode of inheritance for a vast number of traits involved in plant and animal breeding.
Ex. Height, weight, and stature in all plants and animals, grain yield in crops, beef and milk production
in cattle, and egg production in chickens
2. It is an important part of human genetics; traits such as intelligence, skin color, obesity, and
predisposition to certain diseases are said to be under polygenic control.
Analysis of Polygenic Traits

1. Mean
2. Variance
3. Standard Deviation
4. Standard Error of the Mean

HERITABILITY (Impact of heredity versus environment on phenotypic variation)

Heritability index (H2) – can be calculated using an analysis of variance among individuals of a known genetic
relationship. Also called Broad-Sense Heritability, measures the degree to which phenotypic variance (VP)
is due to variation in genetic factors for a single population under the limits of environmental variation during
the study.

 Phenotypic variance (VP) is due to the sum of three components: environmental variance (VE),
genetic variance (VG), and variance resulting from the interaction of genetics and environment (VGE):

VP = VE + VG + VGE (often negligible)

VP = VE + VG
* H2 = VG
____
VP

* An H2 value that approaches 1.0 indicates that the environmental conditions have had little impact on
phenotypic variance in the population studied. An H2 value close to 0.0 indicates that variation in the
environment has been almost solely responsible for the observed phenotypic variation within the population
studied. Broad-sense heritability estimates are not as accurate in estimating the selection potential of a
quantitative trait.

Narrow-Sense Heritability (h2)

Information regarding heritability is most useful in animal and plant breeding as a measure of potential
response to selection. In this case, a different estimate of heritability must be used, based on a subcomponent
of VG, referred to as Additive Variance (VA):

VG = VA + VD +(VI)

Where, VA = additive variance that results from the average effect of additive components of genes
VD = dominance variance, deviation from the additive components that results when phenotypic
expression in heterozygotes is not precisely intermediate between the two homozygotes
VI = interactive variance, deviation from the additive components that occurs when two or more loci
behave epistatically; it is often negligible, thus, often excluded from calculations.

VA
h2 = ---- ; h2 = VA
VP ---------------
VE + VA + VD

Twin Studies in Humans

Human twins are very useful subjects for studying the heredity versus environment question. Monozygotic
or identical twins, derived from the division and splitting of a single egg following fertilization, are identical in
their genetic compositions. Dizygotic or fraternal twins originate from two separate fertilization events. They
are more genetically similar than any two siblings, sharing (on average) one-half of their genes. However, they
share a much more similar environment than do siblings whose births are separated by a number of years.

Concordant – for a given trait, the twins both express it or neither expresses it.

Discordant – if one of the twins shows the trait and the other does not.

Ex. Trait Concordance

MZ DZ
Blood types 100% 66%
Eye color 99 28

It is more meaningful to compare the difference between the concordance values of monozygotic and
dizygotic twins. If the values are significantly higher for monozygotic than for dizygotic, there is a strong
genetic component involved in the determination of the trait

Mapping Polygenic Traits

Chromosome mapping – identification of the location of genes within the genome to establish genetic identity
of organisms. This has been of great interest regarding the genes controlling the expression of quantitative
traits called Quantitative Trait Loci (QTLs).

Sample Problems:

1. Given: Length of stripes of skunks

P: 20 cm x 24 cm

F1: 22 cm x 22 cm

F2: 16, 18, 20, 22, 24, 26, and 28 cm

 No. of offspring = 1000 skunks

a. What is the mode of inheritance?

b. How many gene pairs are involved?
c. What is the contribution of each additive allele?
d. What are the genotypes of the parents (P) and the offsprings (F1)?
e. List 4 genotypes that can give rise to skunks whose stripes are 20 cm long.
Solution:

1/64 = 7 F2 phenotypic class; where n = 3

 c. 16 – 28 / 2 (3)
` 12/6 = 2 (contribution of each 2(3) 6 additive allele)
 Subtract the lowest value of length from the highest value of length, divided by the no. of gene pairs
involved multiplied by 2 (pairs).

2 is the contribution of each additive allele in the offspring.

2. Given: Height of a particular plant

P: 6 cm x 36 cm

F1: 21 cm

 No. of offspring = 200 plants

a. What is the mode of inheritance?

b. How many gene pairs are involved?
c. How much is the contribution of each additive allele to height?
d. What are the genotypes of the parents (P) and the offsprings (F1)?
e. List 4 genotypes that can give rise to plants that are 31 cm long.

3. The results in the table below were recorded for corolla (fused inner petals of the flower) length in
plants.

Corolla (mm)
x 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36

A 8 50 49 10
B 6 47 53 7
F1 5 45 39 7
F2 1 7 29 55 71 57 26 8 1

a. Calculate the mean values of F1 and F2 offsprings.

b. Calculate the variance and standard deviation for both F1 and F2.
c. How many gene pairs are involved?
d. How much does each additive allele contributes?
x n X
25 1 25
26 7 182
27 29 783
28 55 1540
29 71 2059
30 57 1710
31 26 806
32 8 256
33 1 33
261 255 7394

7,394/ 255 = 29.9 or 29