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Fa t Sheet 1 | AN INTRODUCTION TO DNA, GENES AND CHROMOSOMES

DNA o tai s the i st u io s fo g o th a d de elop e t i hu a s a d all li i g thi gs. Ou DNA is


pa kaged i to h o oso es that o tai all of ou ge es.

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.

THE GENETIC BOOK OF LIFE eadi g a pe so s ge ei ook of life Figure


I hu a s ge ei i fo aio , also k o as ou . :

ge o e, a e des i ed as the Book of Life . This
ook a e thought of as ei g ade up of t o O e olu e of the ook is i he ited f o the
olu es, ea h olu e of the ook is gi e to a pe so othe a d the othe f o the fathe
o e of thei pa e ts Figure . . Both olu es o tai hapte s ea h,
e ui ale t to the pai s of h o oso es i
hu a od ells that o tai ge ei
i fo aio
The hapte s h o oso es a e ade
up of a u e of e ipe pages odi g DNA
o ge es a d i - et ee o - odi g pages
of DNA
o e of the hapte s o tai a pages
hile othe s o l ha e a fe . o e
h o oso es a e la ge a d o tai a
thousa ds of ge es a d o - odi g DNA
hile othe s a e u h s alle
Ge es a e se io s of DNA that ode fo the
p otei s ou od eeds to fu io
I - et ee o - odi g se io s of DNA
ha e a ious jo s, ot all of hi h e
u de sta d
Ca eful e a i aio of the o ds ithi
ge es sho s that all the o ds a e ade up
of th ee lete s t iplets su h as AGT, GGT,
ACT, CAA et .
The e a e fou lete s used i the ge ei
ook. The a e A, T, C & G.
Just as eadi g the o ds o the page of a ook
allo s a u de sta di g of the autho s essage,
Figure . : The hu a ge o e so ei es alled the the od is a le to ead the t iplets i ge es to
Book of Life ake the p otei eeded fo ou ells to o k.

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Fa t Sheet 1 | AN INTRODUCTION TO DNA, GENES AND CHROMOSOMES

Ou ells do t eed all the i st u io s all the


i e. Pages of ou ge ei ook a e losed a d
the eope ed he eeded. Ea h t pe of ell
a ha e dife e t pa ts of the ge ei ook
ope ed o shut e ause dife e t ells do dife e t
jo s i ou od . Whi h ge es a e tu ed o o
of a e i lue ed ou diet, he i al
e posu e, e e ise, agei g a d essages f o
othe ge es i the od .

Figure . : Chro oso es are like stri gs of ge es

Figure . : Ge ei ter i ology a d the Book of Life

DNA, GENES AND CHROMOSOMES IN THE BODY Figure . : Diagra of a hu a ell


Ou odies a e ade up of illio s of ells. Ea h
ell o tai s a o plete op of a pe so 's ge ei
ook of life. Chro oso es
Ch o oso es a e thought of as ei g ade The e a e 6 h o oso es o tai ed i the
up of st i gs of ge es DNA that odes fo u leus of od ells:
p otei s ith o - odi g DNA et ee the . Of these, a e f o the othe 's egg a d
The h o oso es, i ludi g the ge es, a e ade a e f o the fathe 's spe
up of a he i al su sta e alled DNA Whe the egg a d the spe joi togethe at
Deo i oNu lei A id . the i e of o epio , the i st ell of the
The h o oso es a e e lo g st a ds of DNA, a is fo ed. This ell is opied to ake all
oiled up like a all of st i g as sho i Figure of the ells of the a
. . The a s od ells o ha e 6
Ch o oso es a e fou d i the u leus of all od h o oso es, ade up of pai s, just like
ells e ept fo ed lood ells hi h ha e o the pa e ts Figure . .
u leus a d the efo e do ot o tai As e age a d g o , ou ells a e o i uall
h o oso es. di idi g to fo e ells.
A othe pla e i the ell he e DNA is fou d is i Du i g this di isio p o ess, ea h of the lo g thi
e s all o pa t e ts alled ito ho dria the h o oso es oils up ightl , so that ea h of the
e eg e t es of the ell that a e fou d 6 i di idual h o oso es i the u leus e o e
s ate ed outside the u leus Figure . . The od-shaped st u tu es a d a e see he usi g
DNA i ito ho d ia is u h s alle a d has e a i os ope.
litle o - odi g DNA.

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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.

I a ge ei tesi g la o ato the h o oso es Ge es


a e olou ed stai ed ith spe ial d es to The DNA aki g up ea h h o oso e is usuall
p odu e disi i e a di g pate s a d li ed up oiled up ightl . If e i agi e it st et hed out, it
i size o de . This p odu es hat e all a ould look like eads o a st i g Figure . :
karyotype. These pate s allo the la o ato to Ea h of these eads is alled a ge e

he k the size a d st u tu e of ea h
Ea h ge e is a i st u io fo a spe ii
h o oso e.
p otei

Figure . sho s a a ded h o oso e
Thousa ds of ge es ake up ea h
ka ot pe he e ea h h o oso e has ee
h o oso e
u e ed f o the la gest h o oso e
u e to the s allest h o oso e u e Bet ee the ge es a e seg e ts of o -
a d a a ged i pai s i o de of size. These odi g DNA.
u e ed h o oso es a e alled autoso es. i e the h o oso es o e i pai s, the e a e
The e a e t o h o oso es that ha e ee also t o opies of ea h of the ge es. The
gi e the la els X a d Y. These a e the se e epio to this ule applies to the ge es a ied
hro oso es. It is these se h o oso es that o the se h o oso es, X a d Y.
dete i e hethe the h o oso es ha e o e i e e ha e o l o e op of the X
f o a ale o a fe ale. h o oso e, the ha e o l o e op of all the
I fe ales, ells i the od ha e 6 ge es a ied o the X h o oso e. Wo e
h o oso es autoso es plus t o opies of ha e t o opies of the X h o oso e i thei
the X h o oso e . The a e said to ha e a ells a d so the ha e t o opies of all the ge es
46,XX karyotype. Eggs fe ale ep odu i e ells a ied o the X h o oso e.
a e dife e t as the o l o tai half of the To adjust fo the fa t that o e ha e t o X
h o oso es ade up of u e ed h o oso es ith lots of ge es hile e ha e
h o oso es a d a X h o oso e . o l o e, o e of the o a s X h o oso es is
I ales, ells i the od ha e 6 h o oso es s it hed of o i a i ated i ea h of thei ells.
autoso es plus a X a d a Y h o oso e . The e a e e fe ge es o the Y h o oso e
The a e said to ha e a 46,XY karyotype. pe a d thei ole is ai l to ake a pe so ale, so
ale ep odu i e ells a e dife e t as the the a e ot eeded i fe ale ells.
o l o tai half of the h o oso es ade
up of u e ed h o oso es a d a X
h o oso e or a Y h o oso e .

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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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Fa t Sheet 1 | AN INTRODUCTION TO DNA, GENES AND CHROMOSOMES

Othe DNA a iaio s a e asso iated ith a i e e ha e t o opies of ea h ge e, if o e


i eased ha e of a health o diio , fo op has a utaio a d the othe op is
e a ple dia etes o a e . o ki g, the e a ot de elop a p o le s.
o e DNA a iaio s a ea the ge e We a e all o ith DNA utaio s a d
i st u io is i o e t so a fault p otei is ade so ei es these a e e ei ial o ause o
o the o t ol s it h is ha ged. A a iaio i a p o le .
ge e that eates a fault is alled a pathoge i Whe a ge e a iaio is p ese t i egg o spe
aria t o utaio . ells, it a e passed o to hild e i he ited .
A DNA utaio a ause a p o le fo o e ell I othe ases, a e ge e a iaio a a ise i
t pe ut ot a othe , si e ot all ells use all of a egg o spe ell. This is alled a de ovo
the possi le p otei s. ha ge.
Whe a DNA ha ge auses a fault p otei i The pe so a isi g f o that egg o spe ell ill
ells that eed that p otei , it usuall esults i e the i st i the fa il to ha e the DNA ha ge
disease s pto s that a so ei es e hi h a the e passed do to his o he
e og ised as a ge ei o diio . hild e a d futu e ge e aio s.

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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Fa t Sheet 2 | VARIATIONS IN THE GENETIC CODE

DNA sta ds fo deo i o u lei a id a d fo s the i st u io ook of ou odies. It is ade up of


e lo g hai s of fou asi uildi g lo ks alled ases. The ases a e a ed Ade i e A , Gua i e G ,
Th i e T a d C tosi e C . Like a ook, the e a e ha ges i the o ds . o e ha ges a e
ha less ut othe s a afe t ou health.

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.

DNA AND GENES Ge e all these a ia ts do ot ha e a i pa t


Ou DNA is ade up of se io s that ode fo o ou health a d a e alled eutral aria ts o
p otei s, ou ge es, a d se io s that do ot poly orphis s poly ea s a ; orphis s
ode fo p otei s. P otei s do the o k i ou ea s fo s . Pol o phis s a e uite o o
ells a d these a e e i po ta t fo o al ell i the DNA ode.
fu io a d ou health. Ou p otei odi g
DNA, ou ge es, do ot o tai u h a iaio . DNA VARIATIONS
e io s of ou DNA that do ot ode fo p otei Va iaio s i the DNA ode a o u du i g ou
o tai u h o e a iaio . We do ot life fo a a iet of easo s i ludi g e posu e to
u de sta d all the fu io s of these o -p otei adiaio , e tai he i als, ha e o othe
odi g se io s of DNA, ut e k o se io s u k o fa to s. Agei g is o e of the ost
a e i po ta t fo o t olli g ou ge es. o o auses of ge ei a iaio . Th oughout
ou life, ells g o , di ide a d die. This ea s
People ge e all ha e the sa e u e a d ells a d thei DNA a e opied o e a d o e
se ue e of p otei odi g ge es so that the agai . As e age, ou ells ake istakes hi h
sa e essages a e se t to the od . Ho e e , a ot e o e ted as ei ie tl as i ou ge
the e a e s all a iaio s et ee i di iduals people. DNA ha ges a u ulate a d a ha e
i the i fo aio o tai ed i spe ii DNA a i pa t o ou health.
odes. Me e s of the sa e fa il te d to e
o e si ila i thei ge es tha u elated o e DNA ha ges do ot see to ake a
i di iduals. dife e e to the a a ell fu io s. These
t pes of ha ges a e p o a l uite o o .
A e a ple of this is e e olou . E e o e has
t o ge es that dete i e e e olou , ut Othe DNA ha ges a e asso iated ith a
ha ges i these ge es a ake e e olou a , i eased ha e of de elopi g a health
this is h so e people ha e lue e es, so e o diio , fo e a ple dia etes o a e .
o , so e hazel. The sa e ge e a se d o e DNA ha ges a ea the i st u io s a e
dife e t essages e ause of a iaio s i the i o e t so a fault p otei is ade o the
essages. o t ol s it h is ha ged. A a iaio i a DNA
i ila l , the e a e s all a iaio s i ou site that eates a fault is alled a utaio .
DNA that a afe t ho ou odies g o a d These a e uite a e.
de elop.

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Fa t Sheet 2 | VARIATIONS IN THE GENETIC CODE

A DNA utaio a ause a p o le fo o e ell I herited


t pe ut ot a othe , si e ot all ells use all of As e io ed a o e, e e o e is o ith
the possi le p otei s. Whe a DNA ha ge auses se e al ge e utaio s i thei , o so total
a fault p otei i ells that eed that p otei , it u e of ge e pai s. These a e usuall passed
usuall esults i a disease state o s pto a d do i the fathe s spe o the othe s egg.
is ote e og ised as a ge ei o diio . O e that hild has the utaio , the ill ha e it
GENE MUTATIONS fo life a d a also pass it o to thei futu e
E e o e is o ith se e al ge e utaio s i hild e . This is a i herited utaio see Figure
thei , o so total u e of ge e pai s. . .
Depe di g o othe fa to s, these utaio s a Figure . sho s a utaio ei g passed do
o a ot ause a health p o le s. th ough the spe o l . I he ited utaio s a
e passed do o l the fathe , o l the
Most of the i e, utaio s ause o p o le
othe o oth pa e ts. The a i hi h the
e ause ge es o e i pai s. This ea s that
utaio /s ill afe t the hild ill depe d o
e e he o e ge e op has a utaio , the
othe fa to s as ell as the utaio /s
othe ge e op is o ki g a d a sill se d the
the sel es.
ight essage to the od . These a e k o as
re essi e ge e utaio s. pe a d egg ells a e alled ge ells a d
the efo e utaio s that a e p ese t i the ge es
I so e ases ho e e , it is esse ial to ha e oth
ge e opies o ki g o e tl as the a ou t of of the egg o spe a e alled ge ell o ge -
ge e p odu t a e ii al. o i these ases, li e utaio s.
e e though o l o e op of the ge e has a If ou ha e i he ited a ge e utaio f o o e o
utaio , a d the othe is o ki g, a health oth of ou pa e ts, ou ill also possi l pass it
p o le a sill o u . These a e k o as o to ou futu e hild e
do i a t ge e utaio s.
Othe utaio s ake a pe so sus epi le to
pa i ula o diio s ut the ill e e de elop
the p o le u less the a e e posed to pa i ula
e i o e tal t igge s. These a e k o as
ulifa torial or sus epi ility ge e utaio s.
I so e ases, ha i g a pa i ula ha ge i ou
DNA a e e ei ial to a pe so . Fo e a ple, i
ega ds to the o diio alled thalassae ia,
esea h has sho that people ho ha e o e
op of thei thalassae ia ge e o ki g a d the
othe ith a utaio a e less likel to de elop
ala ia.
INHERITED, SPORADIC AND ACQUIRED
MUTATIONS
Mutaio s a o u i a u e of a s i a
pe so . The a e i herited f o o e o oth Figure . : I herita e of a utaio fro a ger ell egg
pa e ts, the a o u fo the i st i e i a or sper . The egg fro the other is arryi g a orki g
opy of the ge e. The sper fro the father is arryi g a
pe so fo o appa e t easo sporadi o the faulty opy of the ge e. Their ofspri g ill ha e oth a
a o e a out i the od o e i e a uired . faulty opy a d a orki g opy of the ge e i all the ells of
their ody. This ay also o ur i the re erse situaio .

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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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Fa t Sheet 2 | VARIATIONS IN THE GENETIC CODE

Figure . : Mutaio s i so ai ells ay o ly afe t o e spe ii area su h as the reast issue.

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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