Gene
gene or other DNA sequence on a
 The basic unit of heredity passed from
parent to child. Genes are made up of
sequences of DNA and are arranged, one
after another, at specific locations on
chromosomes in the nucleus of cells.
Allele
 It is a variation of a gene.
Phenotype Gene
 It is the observable and measurable
characteristics or traits of an organism as a
result of the interaction of the genes
Genotype
 It is the genetic makeup of an individual
organism, different alleles, or variant
forms of a gene, for particular traits.
Quantitative
 of, relating to, or expressible in terms of
quantity (numbers)
Multifactorial
 of or designating inheritance that depends
on more than one gene
 having or stemming from a number of
different causes or influences
Polygenic
 An attribute that is determined by
numerous genes rather than only one. An
example is a person’s height.
Polygenes
 One of a group of nonallelic genes that
together control a quantitative
characteristic in an organism.
Additive Allele
 Alleles that contribute to most observable
traits, such as height, weight, hair color,
eye color, and complexion
Nonadditive Allele
 One allele of the gene is expressed
stronger than the other allele.
Loci
 It is the specific physical location of a
chromosome.
Variance
 This means that two or more things are
different, or the amount or number by
which they are different.
Heritability
 A measure of how well differences in
people's genes account for differences in
their traits
Epigenetics
 The study of how your behaviors and
environment can cause changes that affect
the way your genes work.
Quantitative Trait Locus
 It is a region of DNA associated with a
specific phenotype or trait that varies
within a population
Monozygotic
 It arises from the fertilization of one egg
by one sperm (identical)
Dizygotic
 It is the result from the fertilization of two
separate eggs with two different sperm
during the same pregnancy (fraternal)
Heritability Estimate
 The proportion of variation in a population
trait that can be attributed to inherited
genetic factors.
Phenotypic Variability
 The tendency or potential of an organism
to vary and corresponds to the range or
distribution of potential variation.
Genotypic Variation
 The variation in genotypes either between
individuals of the same species or between
different species as a result of genetic
mutation, gene flow, or something that
occurred during meiosis
Environmental Variance
  The deviation from the population mean
due to the environmental conditions that
are uniquely experienced by each
individual.
Broad-Sense Heritability
 It measures the contribution of the
genotypic variance to the total phenotypic
variance.
Narrow-Sense Heritability
 The proportion of phenotypic variance due
to additive genotypic variance alone.
Many traits are not as distinct and clear-cut, including many
that are of medical or agricultural importance. They show much
more variation, often falling into a continuous range of multiple
phenotypes.
Continuous Variation
Quantitative Inheritance
 Continuous variation across a range of
phenotypes can be measured and
described in quantitative terms.
 the input of genes at more than one, and
often many, loci, the traits are said to be
polygenic (literally “of many genes”). The
genes involved are often referred to as
polygenes.
 The final phenotype is often also
influenced by environmental factors to
which that individual is exposed to.
Human height, for example, is genetically influenced but is also
affected by environmental factors such as nutrition.
Multifactorial Traits
 Quantitative (polygenic) traits whose
phenotypes result from both gene action
and environmental influences are termed
multifactorial, or complex traits.
 Geneticists William Bateson and G. Udny Yule,adhering to a
Mendelian explanation, proposed the multiple-factor or
multiple-gene hypothesis, in which many genes, each
individually behaving in a Mendelian fashion, contribute to
the phenotype in a cumulative or quantitative way.
THE MULTIPLE GENE HYPOTHESIS FOR
QUANTITATIVE INHERITANCE
 It is the hypothesis used to explain
quantitative variation by assuming the
interaction of a large number of genes
(polygenes) each with a small additive
effect on the character.
- The multiple-gene hypothesis was initially based
on a key set of experimental results published by
Hermann Nilsson-Ehle in 1909. Nilsson-Ehle
used grain color in this experiment.
The greater the number of additive alleles in the
genotype, the more intense the red color expressed
in the phenotype, as each additive allele present
contributes equally to the cumulative amount of
pigment produced in the grains.
ADDITIVE ALLELES: THE BASIS OF
CONTINUOUS VARIATION
The multiple-gene hypothesis consists of the
following major points:
 Phenotypic traits showing
continuous variation can be
quantified by measuring,
weighing, counting, and so on.
 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.
 Together, the additive alleles contributing
to a single quantitative character produce
substantial phenotypic variation
if the ratio of F2 individuals resembling either of
the two extreme P1 phenotypes can be determined,
the number of polygenes (loci) involved (n) may
be calculated as:
1/4n = ratio of F2 individuals expressing either
extreme phenotype
For low numbers of polygenes (n), it is sometimes
easier to use the equation:
(2n + 1) = the number of distinct phenotypic
categories observed
THE STUDY OF POLYGENIC TRAITS
RELIES ON STATISTICAL ANALYSIS
It is important to remember that 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; that is, they produce a characteristic bell-shaped curve
when plotted as a frequency histogram.
THE MEAN
It provides information about where the central
point lies along a range of measurements for a
quantitative trait.
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:
THE VARIANCE
It provides information about the spread of data
around the mean. The variance (s^2) for a sample is
the average squared distance of all measurements
from the mean. It is calculated as:
It is possible for two sets of sample measurements for a
quantitative trait to 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
To express variation around the mean in the
original units of measurement, we can use the
square root of the variance, a term called the
standard deviation (s).
STANDARD ERROR OF THE MEAN
To measure the accuracy of the sample mean, we
use the standard error of the mean (SX), calculated
as
COVARIANCE AND CORRELATION
COEFFICIENT
The covariance statistic measures how much
variation is common to both quantitative traits. The
covariance (covXY) of two sets of trait
measurements, X and Y, is calculated as:
HERETIBALITY VALUES ESTIMATE THE
GENETIC CONTRIBUTION TO
PHENOTYPIC VARIABILITY
For Multifactorial trait in a given population:
HIGH HERITABILITY ESTIMATE
Indicates that much of the variation can be
attributed to genetic factors, with the environment
having less impact on expression of the trait.
LOW HERETIBALITY RATE
Environmental factors are likely to have a greater
impact on phenotypic variation within the
population.
The concept of heritability is frequently
misunderstood and misused. It should be
emphasized that heritability indicates neither how
much of a trait is genetically determined nor the
extent to which an individual’s phenotype is due to
genotype.
VARIANCE
A heritability estimate tells us the proportion of
phenotypic variation that can be attributed to
genetic variation within a certain population in a
particular environment.
This gives us an estimate of the total phenotypic variance in
the population (Vp). Heritability estimates are obtained by
using different experimental and statistical techniques to
partition Vp into genotypic variance (VG) and environmental
variance (VE) components.
An important factor contributing to overall levels of phenotypic
variation is the extent to which individual genotypes affect the
phenotype differently depending on the environment.
We can now summarize all the components of total
phenotypic variance (VP) using the following
equation:
BROAD-SENSE HERITABILITY
Broad-sense heritability (represented by the term
H2) measures the contribution of the genotypic
variance to the total phenotypic variance. It is
estimated as a proportion:
Heritability values for a trait in a population range
from 0.0 to 1.0.
A value approaching 1.0 indicates that the environmental
conditions have little impact on phenotypic variance, which is
therefore largely due to genotypic differences among individuals
in the population.
Low values close to 0.0 indicate that environmental factors, not
genotypic differences, are largely responsible for the observed
phenotypic variation within the population studied.
Few quantitative traits have very high or very low heritability
estimates, suggesting that both genetics and environment play a
part in the expression of most phenotypes for the trait.
NARROW-SENSE HERITABILITY
Genotypic variance can be divided into subcomponents
representing the different modes of action of alleles at
quantitative trait loci; this partitioning distinguishes among three
different kinds of gene action contributing to genotypic
variance.
Additive variance (VA) is the genotypic variance
due to the additive action of alleles at quantitative
trait loci.
Dominance variance (VD) is the deviation from
the additive components that results when
phenotypic expression in heterozygotes is not
precisely intermediate between the two
homozygotes.
Interactive variance (VI) is the deviation from the
additive components that occurs when two or more
loci behave epistatically.
The partitioning of the total genotypic variance VG is
summarized in the equation:
and a narrow-sense heritability estimate based only on that
portion of the genotypic variance due to additive gene action
becomes:
Omitting VI and separating VP into genotypic
environmental variance components, we obtain:
Narrow-sense heritability, h2, provides a more
accurate prediction of selection response than
broad-sense heritability, H2, and therefore h2 is
more widely used by breeder.
ARTIFICIAL SELECTION
If artificial selection based on the same trait
preferences is repeated over multiple generations, a
population can be developed containing a high
frequency of individuals with the desired
characteristics.
The simplest approach is to select individuals with
superior phenotypes for the desired quantitative
trait from a heterogeneous population and breed
offspring from those individuals.
This equation can be further simplified by defining M2 - M as
the selection response (R)—the degree of response to mating the
selected parents—and M1 - M as the selection differential (S)—
the difference between the mean for the whole population and
the mean for the selected population—so h2 reflects the ratio of
the response observed to the total response possible. Thus,
A narrow-sense heritability value obtained in this way by
selective breeding and measuring the response in the offspring is
referred to as an estimate of realized heritability.
LIMITATIONS HERITABILITY STUDIES
Heritability studies are valuable in estimating the
genetic contribution to phenotypic variance, the
knowledge gained about heritability of traits must
be balanced by awareness of some of the
constraints inherent in such estimates:
 Heritability values provide no information about
what genes are involved in traits.
 Heritability is measured in populations and has only
limited application to individuals.
 Measured heritability depends on the environmental
variation present in the population being studied and
cannot be used to evaluate differences between
populations.
 Future changes in environmental factors can affect
heritability
Monozygotic (MK), or Identical Twin
are derived from a single zygote that divides mitotically
and then spontaneously splits into two separate cells.
Both cells give rise to a genotypically identical embryo.
and
Dizygotic (DZ), or fraternal
twins, on the other hand, originate from two separate
fertilization events and are only as genetically similar as
any two siblings, with an average of 50 percent of their
alleles in common.
Twins are said to be concordant for a given trait if both
express it or neither expresses it. If one expresses the
trait and the other does not, the pair is said to be
discordant. Comparison of concordance values of MZ
versus DZ twins reared together illustrates the potential
value for heritability assessment.
TWIN STUDIES HAVE SEVERAL
LIMITATIONS
1. MZ twins are often treated more similarly by parents
and teachers than are DZ twins, especially when the
 DZ siblings are of a different sex. This circumstance
may inflate the environmental variance for DZ twins.
2. Another possible error source is interactions between
the genotype and the environment that produce
variability in the phenotype.

The most relevant genomic discoveries about twins include the

following:

 By the time they are born, MZ twins do not

necessarily have identical genomes.
 Gene-expression patterns in MZ twins change with
age, leading to phenotypic differences.

QUANTITAVE TRAIT LOCI

Quantitative Trait Loci (QTL) are specific regions

of the genome that are associated with variations in
a complex trait, such as height, weight, or disease
susceptibility. QTL analysis involves the identification of
genetic markers that are associated with a particular trait or
phenotype, and the mapping of these markers to specific
locations on a chromosome.

QTL analysis is typically performed by comparing the genotypes

and phenotypes of a group of individuals or organisms. By
analyzing the correlation between genetic markers and the
phenotype of interest, researchers can identify regions of the
genome that are associated with the trait

QTL analysis is an important tool in genetics and genomics

research, as it can help identify the genes and genetic pathways
that contribute to the development of complex traits. This
information can be used to better understand the underlying
biology of the trait, as well as to develop strategies for
preventing or treating diseases that are associated with specific
QTLs.

 Quantitative inheritance results in a range of

measurable phenotypes for a polygenic trait.
 Polygenic traits most often demonstrate continuous
variation.
 Quantitative inheritance can be explained in
Mendelian terms whereby certain alleles have an
additive effect on the traits under study.

The study of polygenic traits relies on statistical analysis.

Heritability values estimate the genetic contribution to

phenotypic variability under specific environmental conditions.

Twin studies allow an estimation of heritability in humans.

Quantitative trait loci (QTLs) can be mapped and identified.

Heritability is an estimate of the relative contribution of genetic

versus environmental factors to the range of phenotypic
variation seen in a quantitative trait in a particular population
and environment