For SMS 4452

Population Genetics
Previously: Simple haploid model (Wright-
Fisher model)
Compose of 2N genes
Type a and A
{Xn} Xn is the number of a-genes in the nth
generation
No mutation

Mutation: a process by which a gene
occasionally changes from one allele to
another
We assume that: for each gene, the mutation
aA occurs with probability
Aa occurs with probability

Population Genetics
Population of a-type individuals can be
modeled as a MC with transition probabilities




Where



Population Genetics
N k j
j N
j
q
k
j
p
k
N
jk
P
j n X k n X
2 , 2, , 1 , 0 ,
2
2
} ) ( | ) 1 ( { ob Pr
=

|
|
.
|

\
|
= =
= = +
{ }
N j N j
j
q
N j N j
j
P
2 / ) 1 )( 2 ( ) ( {
2 / ) 2 ( ) 1 (
| o
| o
+ =
+ =
If >0,>0, no possibility of fixation
Fixation: become a pure population composed
of only a-genes or A-genes
Instead, the n-step t.p Pjk approach a steady
state probability distribution {Xn} as n



Population Genetics
0 , 1
n
0 k
k
N) 0,1,2....2 k (
)} ( {
n
lim
> H =

=
H
=
H = =

k
k
k
n
X P
Application:
The Reconstruction of Human Evolutionary
History
Goal: Estimate times of evolutionary
events(major migration), demographic history
(population bottlenecks, expansions)



Population Genetics