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Population Genetics

Population genetics involves study of genes at the societal level.

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Oloruntomi Adesina
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47 views32 pages

Population Genetics

Population genetics involves study of genes at the societal level.

Uploaded by

Oloruntomi Adesina
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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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.

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