BABATUNDE BAMIDELE.
GENETICS (ANA 303)
POPULATION GENETICS;
SPECIAL EMPHASIS ON
HUMAN GENOME
PROJECT
OUTLINES
INTRODUCTION (DEFINITIONS)
FACTORS
THE HANDY-WEINBERG PRINCIPLE(EXAMPLES)
HUMAN GENOME PROJECT
REFERENCES
INTRODUCTION
Population genetics
The measurement of variability by describing
changes in allele frequency for a particular
trait
over time
The study of the change of allele frequencies,
genotype frequencies and phenotype
frequencies
INTRO (CONTD.)
Phenotype
The description of all traits of an individual as
they concern its morphology, physiology,
ecological relationships and behaviour
At any given time, the phenotype is the
result of
environment
PHENOTYPIC VARIATION
INTRO (CONTD.)
Gene and Allele
A gene is the basic physical and functional
unit of heredity, passing information from
one generation to the next
An allele is any of the alternative forms of a
gene that can exist at a single locus
INTRO (CONTD.)
Genotype
The description of the complete set of genes
that an individual inherits from its parents
The genotype of an individual remains
unchanged throughout its life, regardless of
the environment surrounding and affecting it
INTRO (CONTD.)
Genetic Variation
Genetic variation deals with the concept of
genotype
Genetic variation affecting traits exists in
most natural populations, but these traits are
influenced by the alleles of many genes in
addition to the effects of the environment
It is difficult to trace phenotypic differences
to the effects of particular genes
INTRO (CONTD.)
A population is …
Ecologically:
A group of individuals of the same species
living within a restricted geographical area
that allows any two individuals to interbreed
Genetically:
A group of individuals who share a common
gene pool and have the potential to
interbreed
INTRO (CONTD.)
Population structure
Three levels of population structure are
identified:
• Individual organisms
• Subpopulations
• Total population
FACTORS
Mutation
Migration
Recombination
Selection
Drift
Mutation
It is the ultimate source of variation and may
be
caused by:
• Errors in DNA replication
• Damage by radiation
Mutation increases diversity but, because
spontaneous mutations are rare, the rate of
change in gene frequency is very low
Consequently, mutation alone does not drive
the evolution of populations and species
FACTORS (CONTD.)
Migration
It is the movement of individuals or any form of
introduction of genes from one population to
another
Migration increases diversity and its rate can be
large, causing significant changes in frequency
The change in gene frequency is proportional to
the difference in frequency between the recipient
population and the average of the donor
population
FACTORS (CONTD.)
Recombination
It is the process whereby a cell generates
new
chromosomal combinations, compared with
that cell or with those of its progenitors
It does not create new diversity but
generates
new combinations of the existing diversity
Genetic variance through recombination,
given that segregating alleles exist at
FACTORS (CONTD.)
Selection
It is the inherited ability of organisms to
survive and reproduce.
It acts in such a manner that, with time,
superior genotypes increase their frequency
in the population
FACTORS (CONTD.)
FACTORS (CONTD.)
Genetic drift refers to fluctuations in
allele frequencies that occur by chance
(particularly in small populations) as a
result of random sampling among
gametes.
THE HARDY WEINBERG EQUATION
STEP 1
Calculating the allele frequencies from the
genotypic frequencies
Easily done for codominant alleles (each
genotype has a different phenotype)
STEP 2
Using the calculated allele frequency to
predict the expected genotypic frequencies
in the next generation
THE HARDY WEINBERG EQUATION
So the genotype frequencies are:
AA = p2
Aa = 2pq
aa = q2
Or p2 + 2pq + q2 = 1
HUMAN GENOME PROJECT
The idea of the Human Genome Project first
began in the 1970s when biologists started
scrutinizing human gene at the molecular
level.
In 1980s several countries started to map
parts of the human genome.
HUMAN GENOME PROJECT
In 1989, the Human Genome Organization
(HUGO) was founded by eminent scientists of
the field for promoting international
collaboration for Human Genome Project
related research
Systematic and collaborative research on
Human Genome Project was started in 1990
with an aim to complete human genome
sequence in 15 years.
HUMAN GENOME PROJECT
More than 2,000 scientists from over
20 institutes in six countries
collaborated for this research. Finally,
the first human genome draft was
published in 2001 in Nature and
Science, top ranked scientific journals.
HUMAN GENOME PROJECT
In
February 2001, the publicly funded Human
Genome Project Organization and the private
company Celera jointly declared that they had
mapped the lion's share of the human genome.
These maps show that there are only about
30,000 genes – much fewer than the 100,000
expected.
HUMAN GENOME PROJECT
Objectives of Human Genome Project
Mapping and Sequencing the Genomes of
Model Organisms.
Data Collection and Distribution.
Ethical, Legal, and Social Considerations.
Research Training.
Technology Development and Transfer.
HUMAN GENOME PROJECT
Issues arising from human genome project
1. This will enable us to ascertain whether
fetuses are likely to develop any genetic
disorder. Although the gene therapy is
infancy and further research is required, but
it is possible in future to replace bad genes
by good genes. Several ethical issues are
related with this.
HUMAN GENOME PROJECT
2. Consider screening in uterus for diseases
that do not get noticeable until many years
after birth. Should we be screening for
Huntington's disease or other diseases in
uterus? Is it fair for the parents to make a
decision about aborting a fetus because that
fetus may have a crippling and develop fatal
disease after 45 years of its birth? Do we
want the child to acquire this potentially
explosive information? How does it affect a
person psychology to know that he or she
will suffer from this cruel disease sometime
later in life?
HUMAN GENOME PROJECT
3. There are many potential liability issues that
may arise out of the accessibility of genetic
testing. Firstly, physicians who know of the
existence of genetic screening and do not
offer it to the patient may be legally
responsible. Secondly, physicians could be
accountable for revealing confidential
genetic information or for not revealing it.
HUMAN GENOME PROJECT
4. Employers may seek to do a genetic screen
of their employees to ensure that those that
are prone to some risk do not suffer
exposure. On the other hand, screens could
be used by employer to appoint only persons
improbable to be subject to any illness.
Eventually pre-employment genetic
screening would actually eliminate some
people from the job market.
HUMAN GENOME PROJECT
5. Genetic information could be beneficial in
the criminal justice system beyond DNA
fingerprinting. Some criminal defendants
may have a genetic tendency to commend
definite type of crime.
REFERENCES
IPGRI and Cornell University, 2003
de Vicente, M.C. and T. Fulton. 2003. Using
Molecular Marker Technology in Studies on
Plant Genetic Diversity.
<www.ipgri.cgiar.org/publications/pubfile.asp
?ID_PUB=912 >
Doolittle, D.P. 1987. Population Genetics:
Basic Principles. Springer-Verlag, Berlin.
Falconer, D.S. and T.F.C. Mackay (eds.). 1996.
Introduction to quantitative genetics (4th
edn.). Longman Group, London.
REFERENCES
Griffiths, A.J.F., J.H. Miller, D.T. Suzuki, R.C.
Lewontin and W.M. Gelbart (eds.). 1996. An
Introduction to Genetic Analysis (6th edn.).
Freeman and Co., NY.
Hartl, D.L. 1988. A Primer of Population
Genetics (2nd edn.). Sinauer Associates,
Sunderland, MA.
Hedrick, P.W. 1985. Genetics of Populations.
Jones and Barlett Publishers, Boston, MA.
Snedecor, G.W. and W.S. Cochran (eds.).
1980. Statistical Methods (7th edn.). Iowa
State University Press, Ames, IO.
