14/02/2019

Faktor-faktor yang mengubah

frekuensi alel dan frekuensi genotip
(Microevolutionary Forces)

Tuty_GenPop_2019

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Microevolution

Macroevolution

Microevolutionary Forces
(Agents)

Mutation
Migration
Selection
Genetic Drift
Non Random Mating

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Mutation
1:100,000 average rate
For a given gene (locus), rate is too slow to
have strong effect in any one population
Some genes mutate at faster rate
Considering all genes, mutations are
frequent
Source of genetic (allelic) variation
without mutations, there can be no evolution

Mutations cause very small changes in

allele frequency per generation

Mutation rates per gene typically are

between 10-4 and 10-6 per
generations, some are much less

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Mutation

Ultimate source of genetic variation

When DNA is copied mistakes can occur
DNA can also be damaged by
electromagnetic radiation (cosmic rays –
UV radiation)
These become new alleles in the
population

Types of DNA mutations

Ancestral

CT
transition
GC
transversion

Deletion

Insertion

Inversion

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Three types of nucleotide

substitution

synonymous

nonsynonymous
or missense

nonsense

Contoh :
Karakterisasi genetik
ikan Galaxias olidus
berdasarkan gen
mitokondria 16SrRNA

Populasi yang diteliti :

Fitzroy River
Scrubby Creek
eastern population
(southern Victoria,
Australia)
Matthews Creek

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Sekuen gen 16SrRNA mitokondria (415 bp)

Galaxias olidus

228 248

OLID* .............TTAAACGACCTA--TCTTAAAGGTAAGAA CTTA......

FITZ .............TTAAACGACCTA--TCTTAAAGGTAAGAA CTTA.......
SCRU .............TTAAACGACCTA--TCTTAAAGGTAAGAA CTTA.......
MATH .............TTAAACAACCTA--TCTTAAAGGTAAAAA CTTA.......

330 340

OLID* .......GAGCATGATCT-CCTAGAGCCGAGAAT AAC.......

FITZ .......GAGCATGATCT-CCTAGAGCCGAGAAT AAC........
SCRU .......GAGCATGATCT-CCTAGAGCCGAGAAT AAC........
MATH .......GAGCATAATCT-CCTAAAGCCGAGAAT AAC........

OMYK

ELUC

OVEN

AZ EB

BR EV

MATH

SCRU

OLID

FITZ

TRUT

BARO

DUTT

LPOW

MARG

NZ* New
GLEN Zealand
LPUR

LCO L
Australia
TAS*

CURD

WFAL*

LSAV*
South America
SAUI*

LRIN*

UPGMA phenogram summary of relationships amongst 16S rRNA sequences from

within and between Galaxias species and outgroup taxa. See Table 2.1 for details of
population codes

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Karakterisasi genetik ikan Periophthalmus

kalolo populasi Muara Bogowonto
berdasarkan gen mitokondria 16S

Periophthalmus kalolo

Hap_1: 1 [P.kalolo-Bogowonto1]
Hap_2: 1 [P.kalolo-Bogowonto2]
Hap_3: 2 [P.kalolo-Bogowonto3 P.kalolo-Bogowonto4]

15
255
12204
Hap_1 TCTTT
Hap_2 ....A
Hap_3 GTGCA

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Sulawesi Utara (Kepulauan

Bunaken, Kepulauan
Mantehage, Sungai Bajo,
danLikupang)

Kepulauan Mahe (Port

Launay, Seychelles, Afrika)
Muara Bogowonto, Kulon
Progo, Yogyakarta

GENETIC CHARACTERIZATION OF KISSING

GOURAMI (Helostoma temminckii Cuvier, 1829)
IN OGAN RIVER, SOUTH SUMATRA INFERRED
FROM COI MITOCHONDRIAL GENES

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S = Serin
T = Threonine
H = Histidine
R = Arginine
L = Leucine
F = Phenylalanine

For a gene with only two alleles, the

change in frequency of an allele depend
both on forward mutation rate (), and the
reverse rate (v)

The forward mutation rate : A a

The reverse mutation rate : a A

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Formula to examine change in gene

frequency

Δp = vqo - po
Δq = po - vqo

Δp = change in gene frequency for A

Δq = change in gene frequency for a
po = initial gene frequency for A
qo = initial gene frequency for a
 = mutation rate from A a
v = mutation rate from a A

Formula to examine the new allele

frequencies after one generation

p1 = po + Δp
q1 = qo + Δq

Δp = change in gene frequency for A

Δq = change in gene frequency for a
po = initial gene frequency for A
qo = initial gene frequency for a
p1 = the new allele frequency for A
q1 = the new allele frequency for a

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The equilibrium frequency

 v
qe = and pe =
 + v  + v

Problem (1)

Consider a population in which po = 0.8

and qo = 0.2. If  = 5 x 10-5 and v = 2 x
10-5, what are the changes in gene
frequencies and what are the new allele
frequencies after one generation? From
the above data, calculate the equilibrium
frequencies

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Migration

STINGRAY MIGRATION
Golden rays or cow-nose
stingray (Rhinoptera
bonasus) migrating
in the Gulf of Mexico
to western Florida
 The stingrays migrate
twice yearly in the
late spring and late
autumn
 The stingrays migrate
long distance. They
can be found as far
as south as the
Carribean and as far
north as New
www.dailymail.co.uk England

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BIRD MIGRATION

The research showed that sooty shearwaters (pictured inset)

migrated 40,000 miles (64,000 kilometers) a year, flying from New
Zealand to the North Pacific and back. It is the longest animal
migration ever recorded electronically
Sumber : news.nationalgeographic.com

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Sumber : www.eilat-guide.com

Just imagine being a bird flying to New Zealand non-stop for six
days from Alaska, arriving exhausted and famished. The eastern
bar-tailed godwit does this every year to escape the winter. Many
other birds also journey thousands of kilometres from the
northern hemisphere.
Sumber : Troup, 2007.Bird Migration. Te Ara-The Enzyclopedia of New Zealand

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Migration

introduction of new individuals

new breeds

new individuals in a breed

new individuals in a herd .

Formula to examine change in gene frequency

Δp = pm - pr
Δq = qm - qr

Δp = change in gene frequency for A

Δq = change in gene frequency for a
pm = dominant allele frequency in the mix population
qm = recessive allele frequency in the mix population
pr = dominant allele frequency in the native population
qr = recessive allele frequency in the native population

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Formula to examine the new allele

frequencies after migration

qm = qr ( 1 – m ) + (m) (qd)
OR
qm = qr – [m ( qr – qd)]
pm = 1 - q m

pm = dominant allele frequency in the mix population

qm = recessive allele frequency in the mix population
qr = recessive allele frequency in the native population
qd = recessive allele frequency in the migrant population
m = proportion of the total population that is migrant

Problem (1)

In a population of 900 butterflies, the

frequency of the fast allele of an enzyme
(p) is 0.7 and of the slow form (q) is 0.3.
Ninety butterflies from this population
migrate to a population in which q = 0.8.
What are the allele frequencies of the new
population?

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Answer :

m = 90/900 = 0.1
qd = 0.3 ; qr = 0.8 ; qm = ?

qm = 0.8 (1-0.1) + (0.1) (0.3) = 0.75

Atau
qm = 0.8 – [0.1(0.8-0.3)] = 0.75

In a population composed of natives and

migrants, the percentage of alleles
contributed by the migrant is :

qr – qm
m=
qr - qd

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Problem (2)
In particular human population, the
frequency of the M allele (p) is 0.75 and of
the N allele (q) is 0.25. In the migrant
population the frequency of N is 0.40. The
mixed population has q equal to 0.32.
What percent of the N alleles in the mixed
population were derived from the migrant
population ?

Answer :

0.25 – 0.32 - 0.07

m =
0.25 – 0.40 - 0.15

m = 0.47

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Selection
Coyote
Wolf

German Sheperd

NATURAL SELECTION

Although mutation
and migration all
influence allelic
frequencies, they African wild dog Coyote
do not of necessity
produce population
of individuals that
are better adapted
to their
Fox Wolf
environment.
Natural selection,
however, tends to
that end Natural Selection

Ancestral Canine

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ARTIFICIAL SELECTION

Artificial
selection, as
practiced by
Saint Bernard Bulldog
animal and
plant
breeders,
follows the
same rules
Yorkshire terrier German shepherd

Artificial selection

VARIASI MORFOLOGI IKAN Galaxias maculatus

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Selection is a process whereby one

phenotype and, therefore, one
genotype leaves relatively more
offspring than another genotype,
measured both by reproduction and
survival

Selection is a matter of reproductive

success, the relative contribution of
that genotype to the next generation

Fitness
A measure of reproductive success is
the fitness, or adaptive value, of
genotype
Fitness (W) usually is computed to vary
from zero to one (0-1) and is always
relative to a given population at a given
time
W=1 the genotype leaves the
most offspring

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Selection Coefficient
A selection coefficient measures the sum of
forces acting to prevent reproductive
success.
It is usually given the letter s and is defined
by the fitness equation

s=1-W

Component of Fitness

Natural selection can act at any stage

of the life cycle of an organism
1. Zigotic Selection
2. Gametic Selection
3. Sexual Selection
4. Fecundity Selection

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Effect of Selection
1. Directional Selection
2. Stabilizing Selection
3. Disruptive Selection

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Formula to examine allele frequencies after

selection
A1A1 A1A2 A2A2 Σ

Initial p2 2pq q2 1
genotypic
frequencies
W11 W12 W22
Fitness (W)
Ratio after p2(W11) (2pq)(W12) (q2)(W22) Ŵ
selection

Genotypic p2(W11) (2pq)(W12) (q2)(W22)

frequencies Ŵ Ŵ Ŵ
after =A =B =C
selection

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Allele frequencies after selection :

p1 = f (A1)1 = A + ½ B
q1 = f (A2)1 = C + ½ B

Change in allele frequencies after selection:

Δp = p1 – p
Δq = q1 - q

The allele frequency of recessive allele

after selection is :

q ( 1 – s.q)
q1 =
( 1 – s.q2)

q1 = recessive allele frequency after selection

q = initial recessive allele frequency
s = selection coefficient

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Example :

The frequency of slow-moving allele of an enzyme (q)

was initially 0.7. If the selection coefficient is 0.6, what
is the allele frequency one generation after selection

Answer :

(0.7) [ 1 – (0.6) (0.7) ]

q1 = = 0.58
[ 1 – (0.6) (0.7)2 ]

If both mutation and selection are operating, the

equilibrium frequency of the recessive allele after selection
is approximately :


q1 =
s

q1 = recessive allele frequency after selection

 = forward mutation rate (A → a)
s = selection coefficient

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Example :

In corn, the mutation rate from the normal allele to the

recessive sugary allele is 2.5 x 10-6 and the selection
coefficient is 0.1. What is the expected equilibrium
frequency of the sugary allele

Answer :

2.5 x 10-6
q1 = = 0.005
0.1

Formula to examine forward mutation rate if

fitness are known

1. 2
b=
1-w

b = frequency at equilibrium
 = forward mutation rate
W = fitness of a dominant trait

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Example :

A dominant trait has a fitness of 0.6. The frequency in

a population of this trait is 1 in 8000. What is the
mutation rate

Answer :

b= 1 ; w = 0.6 ; =?
8000

1 = 2 16.000  = 1 – 0.6
8000 1 – 0.6  = 2.5 x 10-5

2.

 = ½(1–f)x

 = mutation rate
f = the reproductive finess of the abnormal gene
(the frequency that the abnormal allele
is passed to the next generation)
x = the frequency of the abnormality in the
individuals in one generation

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Example :

In a population, the relative fitness of the allele for

chondrodystrophy is 0.1963. The data of a hospital shows
that there were 10 dwarf out of 94.075 births. What is the
mutation rate

Answer :
10 dwarf
x = = 0.00012 ; f = 0.1963
94.075 births

 = ½ ( 1 – 0.1963 ) ( 0.00012 ) = 4.27 x 10-5

Genetic drift

Jalak Bali

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In small populations, significant

random fluctuations in allelic
frequencies are possible by
chance deviation. The degree of
fluctuation will increase as the
population size decreases, a
situation known as Genetic drift

Genetic Drift
Results in changes in allele
frequencies
Average effect is to decrease genetic
variation
Amount of drift depends on the size of
the population

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Two common types of

genetic drift

Founder effect
Population bottleneck

Both decrease genetic variation

Founder effect example

Sonya Clegg studied the effects of
migration of Silvereyes from Tazmania
to Islands surrounding New Zealand.
Six Microsatellite loci were examined
on each population

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Founder Effect
Original Population Subpopulation
forms

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Latest colonization

Population Bottleneck
Decrease in
population
size

Drift thus has an

increased effect

Arrow of time

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Sumber : http://www.brooklyn.cuny.edu

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Sumber : spartanburg.hosted.panopto.com

Untuk mengetahui adanya fluktuasi

frekuensi alel, maka perlu diketahui
standar deviasi ()

pq
 =
2N

p = frekuensi alel dominan

q = frekuensi alel resesif
N = jumlah individu yang dicuplik

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Contoh :
p = 0,4 dan q = 0,6
Jika N = 50.000 individu

(0,4)(0,6)
Maka  = = 0.00155
(2)(50.000)

Artinya dari 50.000 individu

68% 0,4 + 0,00155 
Tidak
(0,39845 – 0,40155) bermakna
95% 0,4 + 0,0031 2
(0,3969 – 0,4031)

Jika N = 10 individu

(0,4)(0,6)
Maka  = = 0,11
(2)(10)

Artinya dari 10 individu

68% 0,4 + 0,11 
(0,29 – 0,51) Fluktuatif
95% 0,4 + 0,11 2
(0,18 – 0,62)

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The effective Population Size (Ne)

4 x Nf x Nm
Ne =
Nf + Nm

Nf = jumlah individu betina dewasa

Nm = jumlah individu jantan dewasa

Contoh :
Nf = 70 individu
Nm = 2 individu

4 x 70 x 2
Ne = = 7,8 8
70 + 2

Ini menunjukkan bahwa pada populasi dengan

jumlah individu betina 70 dan 2 individu jantan
sama dengan jumlah individu 8 yang terdiri
dari 4 individu jantan dan 4 individu betina

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Nonrandom mating

Tuty Arisuryanti
Budi Setiadi Daryono
Laboratorium Genetika
Fakultas Biologi UGM

Nonrandom mating

Nonrandom mating (sistem berkelamin

tidak acak) pada genetika populasi lebih
difokuskan pada Inbreeding
Inbreeding akan meningkatkan proporsi
homozigot pada suatu populasi dan
menurunkan heterozigot
Inbreeding mengubah frekuensi genotip,
tetapi tidak mengubah frekuensi alel

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Rumus yang digunakan untuk menghitung

frekuensi genotip apabila terjadi inbreeding

Genotip Frekuensi Frekuensi

genotip awal genotip setelah
inbreeding
A1A1 p2 1. p2(1-f) + pf
2. p2 + fpq
A1A2 2pq 1. 2pq (1 – f)
2. 2pq – 2fpq
A2A2 q2 1. q2(1-f) + qf
2. q2 + fpq
f = proporsi individu dalam populasi yang melakukan perkawinan

Example :
In a population of flies, 20% of the
individuals interbreed. If q = 0.4, what is the
expected genotypic distribution ?

Answer :
f = 0.2 ; q = 0.4 ; p = 0.6
f(A1A1) = 0.36 + 0.048 = 0.408
f(A1A2) = 0.48 – 0.096 = 0.384
f(A2A2) = 0.16 + 0.048 = 0.208

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Koefisien Inbreeding (F)

Koefisien inbreeding yang dianalisis dari suatu populasi

menunjukkan seberapa jauh penurunan heterosigositas pada
populasi tersebut
Apabila F = 0 tidak ada penurunan
heterosigositas dalam
populasi
Apabila F = 1 menunjukkan bahwa
individu-individu pada
suatu populasi
melakukan inbreeding
(misal pada tumbuhan
yang melakukan self-fertilization)

Rumus yang digunakan untuk

mencari Koefisien Inbreeding

observed heterozygote frequency

F = 1–
expected heterozygote frequency
Atau
expected heterozygote – observed heterozygote
F=
expected heterozygote

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Example

In a population of wild oats, the

frequencies of homozygous dominant,
heterozygous, and homozygous recessive
individulas were 0.67, 0.06, and 0.27,
respectively. What is the inbreeding
coefficient ?

Steps to answer :

Calculate the allele frequencies

Calculate the expected frequency of
heterozygote
Calculate inbreeding coefficient
Suggest the result

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Answer :

1. p = 0.67 + ½ (0.06) = 0.7

q = 1 – 0.7 = 0.3
2. 2pq (expected) = 2 (0.3) (0.7) = 0.42
2pq (observed) = 0.06
3. Inbreeding coefficient (F) =
0.06
F = 1– = 0.86
0.42
4. This number is a high inbreeding coefficient and
suggest that most of the oats in this population
reproduce by self pollination

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