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I su ary
DNA sta ds for Deo yri oNu lei A id hi h is ade up of ery lo g hai s of
he i al leters: Ade i e A , Gua i e G , Thy i e T a d Cytosi e C
DNA o tai s the i stru io s for our ge es
Ge es are the i stru io s for aki g protei s. Protei s do the ork ithi our
ells a d ody
I hu a s, ost ge es are arra ged o hro oso es that are fou d i the u leus of ells.
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Fa t Sheet 1 | AN INTRODUCTION TO DNA, GENES AND CHROMOSOMES
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.ge ei s.edu.au Updated Ju e 6
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Fa t Sheet 1 | AN INTRODUCTION TO DNA, GENES AND CHROMOSOMES
Figure . : At o epio the sper a d egg o i e Figure . : Chro oso e pi ture karyotype fro a ale
,XY.
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Fa t Sheet 1 | AN INTRODUCTION TO DNA, GENES AND CHROMOSOMES
DNA
The e a e o e , ge es fou d i the DNA of
ea h pe so . Ea h ge e has its o spe ii
lo aio o a h o oso e o o the
ito ho d ial DNA a d the ge es odi g DNA
plus the o - odi g DNA ake up that pe so s
ge o e.
The DNA ode is ade up of e lo g hai s
of fou asi uildi g lo ks u leoide
ases alled Ade i e A , Gua i e G , Figure . : The DNA ases pair up to ake ge es
Th i e T a d C tosi e C
A h o oso e o sists of t o of these DNA
hai s u i g i opposite di e io s. The
ases pai up to fo the u gs of a ladde
t isted to fo a dou le heli
Figures . & .
Pai i g of the ases follo s a pate he e
ase A a o l pai ith ase T a d ase G
a o l pai ith ase C. oughl th ee
illio of these ase pai s of DNA ake up
the hu a ge o e
Ou DNA ode is ade up of a o i aio
of th ee of these fou he i al lete s alled Figure . : The DNA heli
a t iplet.
Ea h th ee-lete o d triplet tells the DNA VARIATIONS
ell to p odu e a pa i ula a i o a id, We all ha e s all a iaio s i ou ge ei ode.
the uildi g lo ks of p otei s That is h e a e all u i ue. E e ide i al t i s
ha e so e a iaio s i thei DNA the i e
The se ue e of th ee-lete o ds i
the a e o . Be ause e i he it ou ge es f o
the ge e e a les the ells to asse le
ou pa e ts, e e s of the sa e fa il sha e
the a i o a ids i the o e t o de to
thei DNA i ludi g its a iaio s.
ake up a p otei
The e a e ha ges i the se ue e of lete s
O l a out % of the e i e DNA i the
i the ge e essage; u leoide ase/s A, G, T o
hu a ell is ade up of ge es that
C a e issi g alled a deleio o ase/s a
o tai the i fo aio odes fo aki g
e added alled a i se io a d these a e of
p otei s
o e o a DNA ases.
The e ai i g % of DNA does ot
o tai the i fo aio fo p otei s a d Va iaio s i the ode a o u du i g ou life fo
used to e alled ju k DNA. This o - a a iet of easo s i ludi g e posu e to
odi g DNA sepa ates ge es f o ea h adiaio , e tai he i als o ha e. Agei g
othe alo g the h o oso es a d the e is a o o ause of ge ei a iaio .
is i easi g e ide e that it has a ole i Th oughout ou li es, ou ells a e o i uall
tu i g ge es o a d of. This o - ei g epla ed.
odi g DNA the efo e has a o t ol o e a iaio s i the ge ei i fo aio do ot
fu io ithi the ge o e. see to ake a dife e e to the fu io of
ou ells. These t pes of DNA a iaio s a e uite
o o .
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.ge ei s.edu.au Updated Ju e 6
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Fa t Sheet 1 | AN INTRODUCTION TO DNA, GENES AND CHROMOSOMES
Ge es co tai recipes for the ody to ake protei s - the Book of Life
is like a recipe ook for our odies
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.ge ei s.edu.au Updated Ju e 6
Fa t Sheet 2 | VARIATIONS IN THE GENETIC CODE
I su ary
DNA pro ides the i stru io s for the ells that ake up our ody
E eryo es DNA is so e hat difere t; ariaio s i our DNA ake us u i ue
So e DNA ariaio s are i herited fro our pare t/s, so e appear fro irth hile
others are a uired throughout life
DNA ariaio s that ha e o ad erse efe ts o our ells a d o ur fre ue tly i the
populaio are alled poly orphis s
DNA ariaio s that do afe t the fu io of the protei ade fro a ge e a d o ur less
ote are alled utaio s.
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Fa t Sheet 2 | VARIATIONS IN THE GENETIC CODE
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.ge ei s.edu.au Updated Ju e 6
Fa t Sheet 2 | VARIATIONS IN THE GENETIC CODE
Figure . : Mutaio s a o ur ery early duri g ferilisaio of the egg a d sper . The utaio is ot i herited
ut all future ells of the a y ha e the utaio .
Sporadi Ac uired
Whe a health o diio is aused a ge e DNA ha ges a o e a out due to thi gs e
utaio that appea s fo the i st i e i a e pe ie e du i g ou life. Fo e a ple,
fa il , it is said to e sporadi . po adi ge ei adiaio p odu ed the su , e tai
o diio s o e a out he a spo ta eous he i als, o othe e i o e tal fa to s.
utaio o u s at the i e of fe ilisaio . DNA ha ges a also o u as ou ells a e
Although it is ot i he ited f o o e of ou opied to e a le us to g o o epai da aged
pa e ts, ou a sill pass it o to ou futu e ells th oughout life as e age.
hild e . You spe o eggs ill o o tai
this utaio . see Figure . .
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.ge ei s.edu.au Updated Ju e 6
Fa t Sheet 2 | VARIATIONS IN THE GENETIC CODE
Although the od has a ei ie t s ste to Bod ells ot the egg o spe a e alled
epai these a iaio s i the DNA as the o u , so ai ells a d the efo e a utaio that
so ei es the e is a eakdo i the ell s o u s i a so ai ell is alled a so ai
epai s ste . utaio .
If a a iaio to the DNA o u s a d is ot I Figure . , the so ai utaio has a ise i a
epai ed, it ill e opied i to all the ells a isi g ge e i a ell of the east issue o l a d so
f o that ell see Figure . . a ot e passed o to a hild.
As ith othe DNA a iaio s, if the ge e essage A so ai utaio ill o l afe t the pa t of the
e o es fault , a utaio is said to ha e od i that pa i ula i di idual. o ai ells a e
o u ed. the efo e ot passed do to hild e o
i he ited.
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.ge ei s.edu.au Updated Ju e 6