Biology 4 Tuto 1

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TUTORIAL I

P O P U L AT I O N G E N E T I C S &
M U TAT I O N

Biology 4

presented by
NURULAIN HANNANI | FIRDAUS ZULKIFLI | AMIRUL HAKIM
Q
POPULATION GENETICS
Q1
Population
Why does Hardy-Weinberg need large
Genetics population?
LARGE
POPULATION
SIZE
Allele frequencies in a small population are
more likely to change by random fluctuations
(i.e., by genetic drift) than are allele frequencies
in a large population.

But in nature, the allele and genotype frequencies


of a population often do change over time.

Such changes can occur when at least one of the


conditions for Hardy-Weinberg equilibrium is not met.
Although
departure
from the 5 main conditions is common—resulting
in evolutionary change—it is also common for
natural populations to be in Hardy-Weinberg
equilibrium for specific genes.
BIN
ANALOG
Y!
GENETIC DRIFT?
HOW ?
• One way this can happen is if selection alters
allele frequencies at some loci but not
others.

• Some populations also evolve so slowly that


the changes in their allele and genotype
frequencies are difficult to distinguish from
those predicted for a non-evolving
population.
WHAT DOES
HARDY-W INBERG
QUATION

RELATE TO?
HARDY-
WEINBERG
PRINCIPLE
describes the unchanging frequency of alleles and genotypes
in a stable, idealized population.
RELATED TO

EVOLUTION
• One way to assess whether natural selection or other factors are
causing evolution at a particular locus is to determine what the
genetic makeup of a population would be if it were not evolving at
that locus.

• We can then compare that scenario with the data we actually


observed for the population.

• If there are no differences, we can conclude that the population is


not evolving.

• If there are differences, this suggests that the population may be


evolving—and then we can try to figure out why.
An allele that is totally absent from the population has a frequency of
zero.

If all the alleles of a given locus are the same in the population, the
frequency of that allele is 1. Because only two alleles, A and a, exist at
the locus in our example, the sum of their frequencies must equal 1.

If we let p represent the frequency of the dominant (A) allele in the


population and q the frequency of the recessive (a) allele, we can
summarize their relationship with a simple binomial equation

p + q = 1.0
Parent Generation Offspring Generation
Using Punnet square to derive,

In HWE
A (p) a (q)
p + q = 1.0
p = frequency of dominant allele A A (p) AA (p2) Aa (pq)
q = frequency of recessive allele a
a (q) Aa (pq) aa (q2)
Total frequencies of alleles
In diploid organisms, alleles
of a gene is 100% or 1
occur in pairs!

Thus, genotype and allele Total genotype frequency:


frequency for a population that The sum of genotype p2 + 2pq + q2 = 1.0
has reached genetic equilibrium frequencies of the parent
can be calculated using Punnet and the next generation are p2 = frequency for genotype AA
square. identical (1.0).
2pq = frequency for genotype Aa
q2 = frequency for genotype aa
In Arizona,
It was found that
26 of 6000 people were albino.

“ By using this example, show how the genotype frequencies


of the population can be determined.
Assume that the population was in genetic equilibrium.
AA

  = homozygous dominant genotype frequency /   = homozygous recessive


= heterozygous genotype frequency genotype frequency
AA

  = homozygous dominant genotype frequency /   = homozygous recessive


= heterozygous genotype frequency genotype frequency
 Genotype frequency of albino aa,
  dominant allele frequency
=
= recessive allele frequency
= homozygous dominant genotype frequency  Frequency of allele a,
= homozygous recessive genotype frequency
= heterozygous genotype frequency
 Frequency of allele A,

According to Hardy-Weinberg equation, Genotype


  frequency of homozygous
dominant/normal AA,
p + q = 1.0

p2 + 2pq + q2 = 1.0  Genotype frequency of heterozygous Aa,


Conclusio
In a population that is not evolving, allele and genotype frequencies will remain constant from generation
to generation, provided that only Mendelian segregation and recombination of alleles are at work. Such a
population is said to be in Hardy-Weinberg equilibrium, named for the British mathematician and German
physician, respectively, who independently developed this idea in 1908.

Any population in which the distribution of genotypes conforms to the relation p 2 + 2pq + q2 = 1, whatever
the absolute values for p and q may be, is at genetic equilibrium. Such a population, with no net change in
allele or genotype frequencies over time, is not undergoing evolutionary change.

HARDY-WEINBERG EQUILIBRIUM
Thank You
FOR YOUR ATTENTION

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