DNA

POLYMORPHISM

BY: ROLAINE ANN A. POLO, RMT, MPH

Learning Outcomes:
01 Define DNA Polymorphism

02 List the reasons why polymorphisms exist

03 Describe the types of DNA Polymorphism

04 Discuss the techniques for detecting DNA

Polymorphism

05 List the importance of DNA Polymorphism

 DNA Polymorphism
refers to the presence of
genetic variations or
differences in the DNA
sequences among
individuals of a species or
within a population
Greek.
Poly = "many"
morphe = "form or shape"
Why do
p o ly m o r p h is m s
01 RECOMBINATION
e x is t ?

MUTATION 02

GENE FLOW
03
AND DRIFT

DE NOVO
04
VARIATION
 SINGLE
INSERTIONS & TANDEM
NUCLEOTIDE
DELETIONS REPEATS
POLYMORPHISM
(INDELS)
(SNP)
 SINGLE NUCLEOTIDE
POLYMORPHISM (SNP)

Characteristic:
Point mutations involving a
single nucleotide INSERTIONS TANDEM
& DELETION
Applications:
genetic studies, association REPEATS
studies, & personalized (INDELS)
medicine
 Example:
rs4680 SNP or the COMT
Val158Met polymorphism
 INSERTIONS &
DELETIONS (INDELS)

Characteristic:
Variations involving the
SINGLE insertion or deletion
nucleotide sequences
of
TANDEM
NUCLEOTIDE
POLYMORPHISM
Impact:
can cause frameshift
REPEATS
(SNP) mutations and
gene function
influence
 Example:
Huntington disease, a
neurodegenerative disorder
caused by expansion of CAG
repeats.
 TANDEM REPEATS
Characteristic:
Variations in the number of
repeated DNA sequences
SINGLE within a specific genomic
INSERTIONS & region
NUCLEOTIDE
DELETIONS Applications:
POLYMORPHISM Forensic DNA analysis,
(INDELS) paternity testing, and
(SNP) population studies.
 TYPES OF
Example:
TRs
1. Variable Number Tandem
Repeat (VNTR)
- repeats of 10-50 base
sequences in tandem; found
in minisatellite DNA regions

2. Short Tandem Repeat

(STR)
- repeats of 1-10 base
sequences in tandem; found
in microsatellite DNA regions
 Techniques for Detecting
DNA Polymorphism
Polymerase Chain Reaction
DNA Sequencing Southern blot
(PCR)

Identifies differences of DNA

Directly reads DNA sequences Amplifies specific DNA regions
sequence between alleles of a
for detecting polymorphisms. for analysis
gene
 How does Southern blot is a method for sizing fragments of DNA that are
Southern blot detected using a complementary DNA probe. It can also be used to
determine DNA methylation status.
work?
01 DNA Digestion 05 Detection and Analysis
DNA is cut by The size of the fragments are compared to a "DNA ladder." The
restriction enzymes estimated fragments seen in the patient is used to infer
whether expansion or shrinkage of a tandem repeat is present
02 Gel Electrophoresis
DNA fragments are size-
separated

03 Blotting & Baking/UV

The fragments are blotted onto a
nitrocellulose or nylon membrane and
baked or exposed to UV

04 Hybridization
The labeled nucleic acid (probe) binds
or hybridizes to the target DNA
fragments
Who do you think Anton's father is?

Mother Anton Alleged father 1 Alleged father 2

 Alleged father 2 is Anton's Papa.

Mother Anton Alleged father 1 Alleged father 2

 EVOLUTIONARY ADAPTATION

IMPORTANCE
OF DNA
POLYMORPHISM

GENETIC DIVERSITY DISEASE ASSOCIATION

THANK YOU FOR
INVESTING YOUR
TIME WITH ME.

Rolaine Ann A. Polo, RMT, MPH

raanoza.swu@phinmaed.com