sponsors:sponsors:

International Institute of Molecular and Cell

Biology

Institute of Biochemistry and Biophysics PAS

Nencki Institute of Experimental Biology PAS

Science Festival

Warsaw Agricultural University

organizers:organizers:

Explore your own DNA -Explore your own DNA -what is it all about?what is it all about?

Comparison of the length of the DNA fragments

purified and amplified from participants’

cells

Investigation of genetic polymorphism in

locus D1S80 among the population of

workshop participants

Which really means...

Genetic differences:

• visible (eye colour, skin colour...)

• invisible (activity of alcohol

dehydrogenase)

SNP – single nucleotide

polymorphism

VNTR - Variable Number Tandem

Repeats

People are different People are different

Alleles:Different versions of genes

Polymorphism:

Differences in DNA which

are not essential for

phenotype

Brief introduction Brief introduction

‘Test your DNA’ experiment is based on a principle discovered by Alec Jeffreys (now Sir Alec Jeffreys) in 1985

During his studies of the human genome he found that there are specific regions in our DNA that consist of sequences that are repeated several times (VNTR=Variable Number Tandem Repeats)

Jeffreys called these sequences ‘minisatellites’

These sequences are extremely variable among individuals (including parents, but not identical twins)

DNA fingerprinting technology (based on analysis of several different minisatellite regions in one individual) is used in forensic medicine, paternity testing, ecology and population genetics etc. It is a method for unique identification of an individual (including animals), tissues or cells of an individual.

Why are the minisatellites Why are the minisatellites so important? so important?

WhyWhy D1S80 D1S80 ? ?

- it is an example of minisatelite region of human DNA- it is frequently used to identify individuals – during for example criminal investigations, identification of human remains...- is not connected to any known disease or phenotype- fragments can easily be separated by agarose gel electrophoresis (fragment lengths 200–600 bp)

• Location: shorter arm of the

first chromosome

• Function: non-coding DNA

• Unit of repeat: 16

nucleotides

• Number of repeats: 14–43

• Number of alleles: 29

D1S80D1S80 - basic information - basic information

D1S80 D1S80

.....aagcgctggctcag tgtcagcccaaggaag acagaccacaggcaag

gaggaccaccggaaag gaagaccaccggaaag gaagaccaccggaaag

gaagaccacaggcaag gaggaccaccggaaag gaagaccaccggcaag

gaggaccaccggcaag gaggaccaccaggaag gaggaccaccagcaag

gaggaccaccagcaag gaggaccaccagcaag gaggaccaccagcaag

gaggaccaccaggaag gaggaccaccaggaag gaggaccaccggcaag

gaggaccaccaggaag gaggaccaccaggaag gaggaccaccaggaag

gaggaccaccgggaag gaggaccaccagcaag gaggaccaccagcaag

gaggaccaccagcaag gaggaccaccaggaag gaggaccaccagcaag

gaggaccaccagcaag gaggaccaccagcaag gaggaccaccaggaag

gaggaccaccaggaag gaggaccaccggcaag gaggaccaccaggaag

gagaaccaccaggaag gaggaccaccaggaag gaggaccaccggcaag

gaggaccaccaggaag gagaaccaccaggaag gaggaccaccaggaag

gaggaccaccaggaag gaggaccactggcaag gaagaccaccggcaag...

~86% population ~86% population

is heterozygousis heterozygous

There are 435 possible combinations of alleles

The most frequent alleles are 18 and 24

Heterozygotes and homozygotes

Badano osób: 1950

Number of allele:

Frequency

16 0.0013

17 0.0023

18 0.2380

19 0.0046

20 0.0215

21 0.0108

22 0.0485

23 0.0156

24 0.3310

25 0.0802

26 0.0223

27 0.0192

28 0.0367

Frequency in populationFrequency in population

F – fatherF – fatherM – motherM – motherC – childC – childo – non-related persono – non-related person

Person

B Person

C Person D

evidenc

e Matka

Dziecko

Oskarżony

Dowód

F M C

ExamplesExamples

o Person

B Person

C Person D

evidenc

e

sponsors:sponsors:

International Institute of Molecular and Cell

Biology

Institute of Biochemistry and Biophysics PAS

Nencki Institute of Experimental Biology PAS

Science Festival

Warsaw Agricultural University

organizers:organizers: