single nucleotide polymorphism

Presented by:

PARICHAY S.R

14KUSAG004

INTRODUCTION…

• SINGLE NUCLEOTIDE POLYMORPHISM -HALOTYPES • Applying SNP Profiles in Drug choices • Summary • References

INTRODUCTION….

• Frequently called SNP’s, are the most common type of genetic variation Among people • SNP represents a difference in a single DNA building block called nucleotide • SNP’s occur normally throughout a Persons DNA

• They occur once in every 300 nucleotides on average - which means they are 10 million SNP’s in human genome

Single Nucleotide Polymorphism….

• They act as Biological markers • SNP’s help to predict an individual’s response to certain drugs • Also used to track the inheritance of disease genes within families.

HALOTYPES

• SNP’s doesn’t tell much about a person, in order to find an association b/n SNP’s and medication - Scientists have to look at multiple SNP’s across the stretch of DNA.

T A A/

G G T A C

T A A/

G G T A C C C

G/

T A C

T/

C G A

SNP SNP SNP

T A A G T A C C C T A C T G A

T A G G T A C C C G A C T G A

T A G G T A C C C T A C T G A

T A A G T A C C C G A C C G A

T A A G T A C C C T A C C G A

T A G G T A C C C G A C C G A

T A G G T A C C C T A C C G A

T A A G T A C C C G A C T G A • Three SNP’s can be arranged In 23 or eight different Combinations • Each combination of SNP’s -- Halotype

T A A G T A C C C T A C T G A

T A G G T A C C C G A C T G A

T A G G T A C C C T A C T G A

T A A G T A C C C G A C C G A

T A A G T A C C C T A C C G A

T A G G T A C C C G A C C G A

T A G G T A C C C T A C C G A

T A A G T A C C C G A C T G A HAPLOTYPE 1

HAPLOTYPE 2

HAPLOTYPE 3

HAPLOTYPE 4

HAPLOTYPE 5

HAPLOTYPE 6

HAPLOTYPE 7

HAPLOTYPE 8

Applying SNP Profiles in Drug Choices….

The Drug Albuterol is commonly prescribed to relieve the symptoms of Asthma

Albuterol

Beta 2AR protein

Albuterol acts on the beta- 2 adrenergic receptor to relieve asthma attacks

Albuterol

Beta 2AR protein

The beta2AR protein is encoded by ADRB2 Gene.

ADRB2 Gene

ADRB2 Gene

C T G

SNP’s

Summary….

References......

• biocyclopedia.com/snips • http://learn.genetics.utah.edu/content/pharma/snips/ • Alberts- Molecular biology of cell.