POPULATION GENETICS
W1-W6
WEEK 1
MARKER
1) what is pop genetic
2) relate concept
3)how pop genetics change
DEF: GENETIC MARKER is a gene/DNA sequence with a known location
USES: 1. study polymorphism 2. identify species/organism 3. study diseases
3) MOLECULAR MARKERS based on inheritance
- Dominant
multilocus, single allelic
detect presence of homozygote or not
band is from only one parent
"Variable number of tandem repeat."
in a gene, the marker is tandem, agtcagtcagtc ,
repeated because the agtcagtcagtc repeated many times in the species.
but the number, how many the sequence repeated is differ in every specience, sebabtu its called variable.
non coding
heritable
differ from person to person
repeated in genome
- Codominant
Single locus, multiallelic
identify heterozygote
band is from both parent
AFLP
MICROSATELLITE
RAPD
RFLP
types: 1) bichemical marker 2) morphological
snp
snp vs mutation
mutation occur less 1% snp occurs more in popu
snp occur at same location mutation at diffent many loaction
short, repeated tandem sequnce on a loci. ex: (CA)n STR.
Polymorph bcs number of repeats varies
1) Designed primer is needed for one specific locus.
2) reproducible . use same primer for all individual.
EPS
What is?
how GD change allele frequency
number of individual in ideal population that have the same GD value as GD in actual population.
factors influenced
↓ 1) variation in population size
↓ 2) unequal males & females
3)age structure
4)family size in skewed distribution
VARIATION
Def: differences between members/individuals of same species
types
continuouse like height
discontinuose blood type, tougue rolling
influence by
inherited like hair colour. follow mendel's law
environmental factor like habitat, diet, climate
POLYMORPHISM
if there is more allele located on locus at a gene. at least more than 1% have the polymorphism if less is considered mutation
use southern blotting
POLYmorphism many loci reproducible
PROS
prob can be unknown
CONS slow labour intensive(susah) high quality bcs uses of RE radioactive costly
HW
- HW in 2 and multiple allele
- calculate freq, estimate from sexes, haploid-diploid organism
- measure of variation
Hardy-Weinberg
freq remain constant throuout generation if population in equilibrium.
if G1 has 5 A, G2 also 5 A
(5 conditions)
- Big n size
- RM
- no Mutation
- No GF
- no NS
big n: so chance dont distrupt the equilibrium. small popu can show mutation quick. 100-1000
RM: @ panximia every person same chance to mate. so individuals dont choose mate, dont choose special characteristics. in assortive mating, few heterozygous will be.
no M: so no allele frequency changes, no new allele introduced
no GF: no new allele come in or out of population
no NS: no allele are selected. if do, that allele will be more common which lead to fixation.
CALCULATE FREQ
DIPLOID
allele p + q = 1.0 {proportion all alles in population}
p = AA + (1/2)(Aa)
genotype p2 = AA 2pq = Aa q2 = aa
{proportion of individuals in population}
ADDITIONAL ASSUMPTIONS:
diploid: 2N
sexual reproduce
non-overlap
STAGES for HW Equilibrium to be true:
1) Parents Gene frequency [segregation normal]
2)ZYGOTE genotype freq
3) PROGENY genotype freq
4) PROGENY Gene freq
HW CASES
(1) 1 locus 2 Alelles
general eq yg we studied.
P=(p2 value) + (1/2)(2pq value)
BCS this is HW ;
A = p ; a = p
AA + 2Aa + aa ---- (p)(p) + 2(p)(q) + (q)(q) >>> progeny pop
➥ progeny pop depends on initial freq.
(2) multiple allele
∑𝐩𝐢𝟐
∑𝐩𝐢𝟐
A1 , A2 , A3 , ... An
homozygote AiAj = pᵢ2
heterozygote AiAj = 2pᵢpⱼ @ 1- ∑pi2
after ONE generation of RM ,
reaches equilibrium.
SHOWN BY...
2) Genotype RM
EX: blood group bcs each of 4 group is a combination of diff genotype
CALC start from recessive freq ; * P + Q + R = 1
1) Gametes RM (allele) Genes: A , a' , a their freq: p , q , r
//refer slide// ** Pᴬ = p
AFFECTING HW
(1) X-Linked
LINKAGE DISEQUILIBRIUM
more loci
BY:
Population mixturee have different gene freq
by chance
selection
HW 2 locus
EWUILIBRIUM after many generation
because of sex-dependant in tranmission of x-linked gene. X of a male is same as mother
W ; FITNESS
1) selection impact equilibrium
2)it impact fitness
3) types of selection: hetero etc
4) dom , hetero adv , hetero disadv
Absolute W: { survival rate x offspring }
Unfitness = Selection Co ; S=1-W selection to be 'eaten'
Relative W : rate of changes avrg: FREQ X FITNESS
NS
components
VSFGC
VIABILITY ; HIDUP
SEXUAL : MATE
FECUNDITY : BABY
GAMETIC
COMPABILITY
GD LOSS
1) effect of GD
2) def EPS
3) estimate EPS
4)Selection effect in finite pop
GD is stochastic@ RANDOM process , causes changes in freq
if n 🡣small , stochastic impact 🡡
DEME.
small population. have small breeding units : limited genetic exchange , inbreeding occur
EPS
no of individuals in deme that exchange gene,
Ne
= individuals capable of reproduce and contribute offspring. in ideal population
- determine rate potential loss/change gene freq by GD
Determine effectiveness of selection relative to drift
Factors affecting
SVSD
// compounding effect//
SeX RATIO 🢃EPS
- can through social status.
100 EPS if ratio 50:50
Ne = 4 (Nm x Nf)
Nm + Nf
VARIATION IN REPRODUCTIVE OUTPUT 🢃 85% EPS
- number of offspring produced.
- in species with many offspring but low survival
Not all will reproduce tho theyre able to
1) age 2) healt 3) sterile 4) social status
FLUACTUATING POP SIZE
GD can erodes diversity
- in 4 seasons, ada cycle. EPS determined at smallest pop size point in the cycle
- rate of GD is highly influenced by the lowest population size in a series of generations.
1/Ne = 1/t (1/N0 + 1/N1 + ...)
DEMES 🢃EPS
EFFECTS
Because of the SVSD,
large popu act as small popu
GD erodes diversity.
effect is longterm
EVOLUTIONARY POTENTIAL
loss when popu small , diversity 🢃
evolution option like alllele are lose.
extinction rate 🢁
EXTINCTION VORTEX (6)
small pop ➟ inbreed/GD ➟ loss genetic diversity ➟
loss fitness/adaptability➟low reproduction/high mortatlity➟more smaller size
N IG D F R M N
⬇⬇⬇
major cause by
1) Environment Variation
2) DEmographic Var
3) Genetic diversity loss
OCCURS
in evolutionary genetics
(1) fitness often changes bcs environment (summer-winter)
(2) NO SELECTION
SELECTION FIXATION
division
Bottleneck Effect
Founder Effect
DEF
- the drastic loss genetic variation
-small portion of the initial population is lucky enogh to be alive
-this new populationcontain generic variation that is not represent the initial population
DEF
- small portion of the original population isolated
- then colonize a new area
- this new founder population doesnt represent the allelic frequency of the original population
POPULATION GENETICS
W7-W8
W8 INBREEDING
Forum
HUMANS
123 consanguineous marriages were revealed from data of 1930 matings of Garia population in India. the article revealed the inbreeding coefficient of 0.0064 ± 0.001 based on consanguineous matings. the inbreeding result in the female having low reproductive performance, 4.80 compare to non-consanguineous matings where it is 5.40 per mother. the Pre-reproductive deaths among live births were also found to be high (0.46 percent) from unions of consanguineous spouses. [1]
ANIMALS Norwegian Lundehund dog were threatened by severe inbreeding. the remaining Lundehund world-wide today appear to descend from only two individuals after underwent severe bottlenecks. disease such as gastrointestinal disease are common in their population to which all the remaining dogs may be predisposed. thus, the article discussed about rescuing their population by outcrossing the individuals with multiple breeds [1]
PLANTS
Barley pedigree figure above shows how individuals are related to one another. as a result, Harrington Barley lack of leaf disease resistance and susceptible to stem rust, net blotch and root rot .
plant breeder need to be careful so that disease resistance, yield and commercial value can be maintained and improved. with pedigree structure breeders are able to make better decision on crossing the plants. [1]
DEF
- mating between close relatives that causes changes in genetic variances
- proportion reduction in heterozygosity relative to random mating
relationship
fitness
cause depletion in fitness because arise of delterious alleles
if F=1 , fitness decrease
drift
drift cause small population
selection
affect the outcome of selection
GENE FLOW
POP GENETIC
DEFINE
GENE FLOW IN POPULATION
MODELS
click to edit
MUTATION
TYPES
click to edit
CHROMOSAMAL
INVERSION
TRANSLOCATION
BASE
EVOLUTION RESULT OF CHANGES IN ALLELE FREQ
Isozymes
macromolecule compound
- proteins
CONS
mostly locate at one chromosome
tissue sensitive
DNA - USE RANDOM PRIMER - PCR - AMPLIFY
PROS
whole genome can be amplified
using single and random primer
High polymorp
quick to conduct
use re enzyme - attach adapter to the fragement - selective fragemnt - Pcr amplification
PROS
very strong n reliable
Does not require sequence information because primer is specific with adapter
use re enzyme - fragment produced - insert electrophorasis - blot