Fa t Sheet 3 | GENE MUTATIONS

Ge es o tai the i st u io s fo g o th a d de elop e t. So e ge e ha ges ake the ge e fault so

that the essage is ot ead o e tl o is ot ead at all the ell. A a iaio i a ge e that akes it
fault is alled a utaio o pathoge i aria t.

I su ary
A utaio alters the ge e essage so that it o lo ger se ds the orre t i for aio to
the ells
Mutaio s are prese t i all of us ho e er there are other fa tors hi h afe t ho they
i pa t o our health
So e utaio s are passed do through a fa ily hile others ay e a uired
throughout life
Ge es are ade up of a DNA ode
There are difere t types of utaio s he you look losely at the DNA ode.

Ou od is ade up of illio s of ells, a d i P otei s a e i po ta t i o t olli g spe ii

ea h ell the e a e i st u io s, alled ge es, that
ake all the e essa st u tu al o po e ts a d
he i als fo the od to fu io . These ge es
a e pa kaged o to lo g st a ds k o as
hro oso es.
We all ha e 6 h o oso es a a ged i to
pai s. O e op of ea h pai is i he ited f o ou
othe a d the othe f o ou fathe . The i st
h o oso e pai s a e u e ed a d a e
k o as autoso al hro oso es. The d
pai
is ade up of the se hro oso es alled X a d
Y. Males ha e a X a d a Y h o oso e a d
fe ales ha e t o opies of the X h o oso e.
A CLOSE LOOK AT DNA, GENES AND
CHROMOSOMES
DNA is fou d alo g the h o oso es a d a e
thought of like a e t e el lo g thi st i g, ade
up of a se ue e of he i al u its alled ases.
The e a e fou dife e t t pes of ases, Ade i e
A , C tosi e C , Gua i e G , a d Th i e T .
The ases hi h fo DNA a e g ouped togethe
i at hes of th ee hi h akes it possi le fo the
ell to ead the i st u io se ue e.
Ea h th ee lete se ue e fo s hat is alled a
odo . A e a ple of the ode i a e s all pa t
of a ge e a e TAC GCC CAG CAG TCA CTG.
Whe these odo s a e ead as pa t of a ge e,
the p o ide the ell ith the i st u io s to uild
a protei .
fu io s i the ells, us les, o ga s a d a
othe pa ts of the od .
It is i po ta t that the o e t ge e essage is
ead i o de fo the o e t p otei to e uilt.
The a that a p otei is ade depe ds o the
DNA essages i the ge e.
The th ee lete odo s code fo spe ii a i o
a ids. It is these a i o a ids hi h uild up to
fo the p otei s.
Codo s do ot al a s ode fo a a i o a id.
So e ha e othe spe ialised essages fo the ell
su h as stop o start a d help the ell e og ise
he e the a tual ge e essages egi a d e d.
O l a out % of the e i e DNA i the hu a
ell the hu a ge o e is ade up of ge es that
o tai the i fo aio fo aki g p otei s.
The odi g DNA se ue e ithi a ge e is alled
a e o e ause it is e p essed .
Othe se io s of DNA do ot ode fo p otei s
a d a e efe ed to as o -codi g DNA.
Ge es a e st i gs of odo s a a ged i a spe ii
o de .
Just like i a e ipe fo a ake, the i g edie ts
ust e ight a d added togethe i the ight
o de . A odo is the efo e like a o d i a
e ipe fo a p otei

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 Fa t Sheet 3 | GENE MUTATIONS
If the e ipe does ot o k p ope l o is
fault , the p otei a ot e p odu ed i the
ight a ou t o it a ot e a le to fu io
as it should i the ell. I so e ases this a
ause a ge ei o diio .
The se ue e of lete s i a ge e, i sets of th ee,
o tai the i st u io s fo ou ells to sta t
aki g a p otei , to put the a i o a ids i to the
p otei i the ight o de a d to stop he the
p otei is o plete.
LOOKING FOR MUTATIONS IN THE GENETIC CODE
If the se ue e of DNA lete s i a ge e is ot a le
to e ead i the o e t a , the p otei :
Ma ot e p odu ed i the ight a ou t
Ma e p odu ed i a fo that ill ot
fu io
Is ot p odu ed at all.
This a lead to health p o le s a d a e
e og ised as a ge ei o diio .
The i st step i dete i i g the ause of a ge ei
o diio is to lo ate the ge e i ol ed. The
lo aio of a of the ge es i hu a s is o
k o .
The e t step is to stud the se ue e of lete s i
the ge e o su ou di g the ge e i a pe so s
ells. It is i po ta t to dete i e if the se ue e
of odo s i the e ipe of that ge e is o e t.
Ge ei tesi g ai s to dete i e hethe a
pe so has o does ot ha e a utaio i a
pa i ula ge e. This a e i po ta t i fo aio
fo oth that pe so a d thei fa il fo a u e
of easo s:
Ge ei tesi g a lead to the diag osis of a
ge ei o diio i that i di idual o othe
e e s of thei fa il
Fo so e o o o diio s, the esults of a
ge ei test a sho that a pe so is at a
i eased ha e of de elopi g a pa i ula
o diio . This is k o as predici e tesi g
fo o diio s su h as fa ilial east a e
.ge ei s.edu.au
Mo e a el , a ge ei test a dete i e
hethe a pe so ill de elop a o diio ,
ased o the p ese e of a utaio . This
a e ide iied lo g efo e a s pto s
a e p ese t a d is alled presy pto aic
ge eic tesi g. A e a ple of a o diio
he e this is possi le is alled Hu i gto
disease.
The efe t a utaio has o a pe so s g o th,
de elop e t o health is dete i ed a u e
of fa to s i ludi g ho it afe ts the ge e
p odu t the p otei ; hi h ells i the od a
the utaio ; a d he the utaio a ose i
that i di idual.
TYPES OF MUTATIONS
The e a e a u e of dife e t t pes of ge e
utaio s that ha e ee dis o e ed.
a) Spelli g ha ges i the ode
Cha gi g the spelli g of a o d i the essage
su situi g o e lete ith a othe is alled a
poi t utaio Figure 3.1a .
DNA ha ges that ause a dife e t a i o a id to
e i luded i the p otei a e alled isse se
ha ges.
DNA ha ges that ause a ea l stop essage i
the p otei a e alled o se se ha ges.
) Deleio of a ode ord
A utaio a also o u he pa t of the ge e is
deleted f o the ge ei ode Figure 3.1 . If
this o u s, the essage ill e too sho t a d
the efo e ill ot ake the o e t p otei .
) I serio of a ode ord
A i se io utaio o u s he e t a DNA is
i se ted i to the ge ei ode Figure 3.1c . If
this o u s, the essage ill e too lo g a d
the efo e ill ot ake the o e t ge e p odu t
o p otei .
d) Repeated ode ords
A othe t pe of ge e utaio is alled a
tri u leoide repeat he e e tai ode o ds a e
epeated i a se ue e o e ote tha usual
Figure 3.1d .
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 Fa t Sheet 3 | GENE MUTATIONS

Figure 3.1: Types of utaio s which lead to a faulty ge e essage

Ma ge es o tai epeated se ue es of the FACTORS THAT CAN INFLUENCE HOW A

th ee lete DNA odes as pa t of thei o al MUTATION AFFECTS THE BODY
essage. Si e the h o oso es o e i pai s, the e a e
also t o opies of ea h of the ge es. The
The u e of ode o ds that a e epeated e epio to this ule applies to the ge es a ied
ithi the essage o i the i fo aio o the se h o oso es alled X a d Y.
o t olli g the essages p odu io is
i po ta t fo the a a ge e o ks. A utaio i a ge e ill afe t the od
dife e tl depe di g o ho u h it ha ges
If the u e of epeats i eases o e a ii al the esuli g p otei , ho ii al that p otei is
le el, the ge e a e o e u sta le a d a to the od a d ho u h of that p otei is
de elop e e o e epeats of the ode o ds as eeded i the od .
the ge e is opied.
If a DNA ha ge o u s i o l o e of the pai of
A i ease i the u e of epeated ode ge es a d this auses a health o diio , it is
o ds a o u du i g the p odu io of the alled a do i a t utaio .
egg o spe .
If a health o diio o l o u s he oth
So e ge ei o diio s a e aused opies of the ge e a e ha ged, this is alled a
dife e t utaio s that o u i the sa e ge e re essi e utaio .
i dife e t people.
A autoso al ge e is a ge e lo ated o a
What this ea s is that i so e people, the u e ed h o oso e a d usuall afe ts
o diio a e due to a poi t utaio , hile ales a d fe ales i the sa e a .
i othe s it a e a deleio i the sa e ge e.
A se -li ked ge e is lo ated o the X o Y
h o oso e a d afe ts ales a d fe ale
dife e tl .
Both e essi e a d do i a t utaio s a e
fou d o autoso al o se -li ked h o oso es.

We all have a u er of recessive ge e utaio s hich are hidde due to the fact that e have a
ackup orki g copy of the ge e a d therefore the correct ge e product is ade.

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 Fa t Sheet | CHROMOSOME CHANGES

Ge es a e ade up of DNA a d a e pa kaged o h o oso es. It is i po ta t that the h o oso e

ala e i the ells of ou od is o e t i o de fo the o e t a ou t of DNA a d ge es to e p ese t.

I su ary
I the ells of the ody, there are usually 3 pairs of hro oso es aki g a total of 6
I the fe ale egg ells a d the ale sper ells there are o ly 3 si gle hro oso es
If there is ore or less hro oso e aterial prese t i the ells of a i di idual,
a health or de elop e tal pro le ay o ur
Chro oso e ha ges a i lude ariaio s i the u er, size a d stru ture of
o e or ore hro oso es

CHROMOSOMES IN THE BODY

Ch o oso es a e lo g st a ds of DNA fou d i the ells of the od . DNA o tai s ge es that p o ide
the oded i fo aio fo ou odies to g o , de elop a d fu io .

CYTOGENETICS is the s ie ii study of hro oso es

KARYOTYPE refers to the u er a d type of hro oso es see i a perso s ells

I ea h hu a ell, e ept the egg a d spe Whe the egg a d spe joi at o epio , the
ells, the e a e 6 h o oso es. Ch o oso es a ill ha e 6 h o oso es i its ells, just
a e fou d i pai s a d ea h pai a ies i size. Thus like the pa e ts see Figure .1 .
the e a e pai s of h o oso es, o e of ea h I a ge ei tesi g la o ato , the h o oso es
pai ei g i he ited f o ea h pa e t. a e olou ed stai ed ith spe ial d es to
The e a e u e ed h o oso es f o p odu e disi i e a di g pate s. These
the la gest to the s allest: i.e. - . These pate s allo the la o ato to he k the size a d
a e alled autoso es st u tu e of the h o oso es.
The e a e also t o se hro oso es, alled
Xa dY
I fe ales, ells i the od ha e 6
h o oso es autoso es plus t o opies of
the X h o oso e . The a e said to ha e a 6,XX
ka ot pe. Eggs fe ale ep odu i e ells a e
dife e t as the 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 .
I ales, ells i the od ha e 6 h o oso es
autoso es plus a X a d a Y h o oso e .
The a e said to ha e a 6,XY ka ot pe.
Spe ale ep odu i e ells a e dife e t as
the 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 Figure .1: At co cepio the sper a d egg co i e
h o oso e o a Y h o oso e .

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A h o oso e o diio o us he a
i di idual is afe ted a ha ge i the u e ,
size o st u tu e of o e o o e h o oso es.
The ha ge i the a ou t o a a ge e t of the
h o oso e/s i the ells a esult i p o le s
i g o th, de elop e t a d/o fu io i g of the
od s ste s.
Ch o oso e ha ges a e i he ited f o a
pa e t o a o u fo the i st i e i a a fo
u k o easo s spo ta eous o u e e .
Whe a h o oso e o diio o u s fo the i st
i e, it is thought that the h o oso es e a e
u ala ed he the egg o spe ells hi h
ade that a e e fo i g. Cha ges a also
o u ate a a is o ei ed.
Figure . : Chro oso e picture karyotype fro a ale TYPES OF CHROMOSOME CHANGES
,XY.
. Cha ges i the u er of hro oso es i
Figure . sho s a a ded h o oso e the ell
ka ot pe f o a ale he e ea h h o oso e
has ee u e ed f o the la gest Havi g e tra or issi g chro oso e/s
h o oso e u e to the s allest Du i g the fo aio of the egg o spe , the
h o oso e u e a d a a ged i pai s i h o oso e pai s usuall sepa ate so that ea h
o de of size. egg o spe ell o tai s o l o e op of ea h
of the pai s of h o oso es. So ei es,
We k o these h o oso es a e f o a ale e o s a o u i the sepa aio of the
e ause of the X a d a Y. h o oso e pai s he the eggs o spe ae
fo i g.
The esult is that so e of the eggs o spe a
ha e eithe a e ta h o oso e
h o oso es o a loss of a h o oso e
h o oso es .
Whe a spe o egg that o tai the usual
Figure .3 is a diag a of a h o oso e sho i g ho the h o oso es o i e at o epio ith a egg
e t o e e di ides it i to a sho t a , alled the `p a ,
o spe o tai i g a ha ged h o oso e
a d a lo g a alled the ` a .
u e , the esult is a e o ith too fe o
too a h o oso es e.g. o
At o e poi t alo g thei le gth, ea h h o oso e h o oso es i stead of the usual 6.
has a o st i io , alled the e tro ere. The
e t o e e di ides the h o oso e i to t o The ost o o e a ple of a h o oso al
se io s o ar s. Nu e i g the h o oso es o diio due to a e tra op of a h o oso e
a d la elli g thei a s allo s s ie ists to pi is alled Do sy dro e.
poi t i po ta t se io s of h o oso es. I di iduals ith this o diio usuall ha e th ee
The total u e of h o oso es i the ells, opies of h o oso e u e , i.e.
a d the des ipio of the se h o oso es h o oso es i thei ells i stead of 6. As
p ese t, is ite i a sho te ed a . Fe ale is triso y ea s three odies, Do sy dro e a
ite as 6,XX a d ale as 6,XY. also e alled t iso .

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The ka ot pe to des i e the h o oso e

ha ge i Do s d o e is ,XX+ if the
pe so ith Do s d o e is fe ale a d
,XY+ ould des i e a ale ith Do
s d o e.
Ha i g e t a opies of eithe the X o Y
h o oso es the se h o oso es a also
ause health o de elop e tal p o le s. A
e a ple is Kli efelter sy dro e, he e o s a e
o ith t o o o e opies of the X
h o oso e i addiio to a Y. Kli efelte
s d o e is ep ese ted ,XXY. All people
ith Kli efelte s d o e ill e ale due to the
p ese e of a Y h o oso e.
Ha i g a e i e u e ed h o oso e issi g
is e a e a d ill usuall lead to p eg a loss
o a a ho is ot ali e fo lo g ate i th. Figure . : Chro oso e picture karyotype fro a ale
with p- sy dro e.
It is possi le ho e e to ha e o e X h o oso e
issi g a d ha e a o diio alled Tur er
sy dro e. Gi ls ith Tu e s d o e ha e o l Deleio s a o u a he e alo g the le gth of
o e op of the X h o oso e i stead of the a h o oso e. O e e a ple of a deleio
usual t o opies i.e. h o oso es i thei s d o e is p- s d o e. I this o diio , a
ells i stead of 6. This is ep ese ted ,X. All s all pa t of the sho t p a of h o oso e
people ith Tu e s d o e ill e fe ale due has ee deleted, ausi g a a ge of health
to the a se e of a Y h o oso e. p o le s Figure .
Havi g a e tra full set of chro oso es Duplicaio s gai of ge eic aterial
So ei es a ies a e o ei ed ith th ee A s all pa t of a h o oso e a e gai ed
opies of e e h o oso e i stead of the usual dupli ated alo g its le gth. This esults i a
t o a d ha e a total of 69 h o oso es i ea h i ease i the u e of ge es p ese t a d a
ell i stead of 6. This situaio is des i ed as esult i a p o le ith health, de elop e t o
t iploid a d usuall leads to p eg a loss o a g o th. Dupli aio s a o u a he e alo g
a ho is ot ali e fo lo g ate i th. the le gth of a h o oso e.
. Cha ges i hro oso e size a d stru ture I versio s a d ri gs
So ei es the st u tu e of o e o oe So ei es the h o oso es t ist i o
h o oso e is ea a ged leadi g to a gai o the sel es, i.e. e o e i e ted o joi at the
loss of ge ei i fo aio . These ha ges a e ds to fo a i g i stead of the usual od shape.
o u du i g the fo aio of the egg a d spe , This a esult i the loss of so e ge ei
du i g o sho tl ate o epio o the a e ate ial. Also, the ha ge i st u tu e a ause
i he ited f o a pa e t. p o le s he the h o oso es di ide to fo
the egg o spe .
Deleio s loss of ge eic aterial
A s all pa t of a h o oso e a e lost If a pa e t has a h o oso al e-a a ge e t
deleted . If the issi g ate ial o tai s like a i e sio o a i g, the hild a e ei e a
i po ta t i fo aio fo the od s i ala e of h o oso al ate ial, hi h a
de elop e t a d g o th, a ge ei o diio a esult i a p o le ith health, de elop e t o
esult. g o th.

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U ipare tal diso y The p opo io s of h o oso all ha ged a d

Usuall a hild ill i he it o e op of ea h pai of o al ells a e uite a ia le a d a also
h o oso es f o thei othe a d o e op a et ee the ells of dife e t od issues.
f o thei fathe . I so e i di iduals, oth opies
Fo i sta e, so eo e ho is osai fo t iso
of o e of the h o oso es o e f o eithe
a ha e the h o oso e ha ge i 6 % of
thei othe o thei fathe , i.e. oth opies of a
thei ski ells a d i o l % of thei lood ells.
pai of h o oso es ha e o e f o the o e
pa e t. This is efe ed to as u ipare tal diso y. Tra slocaio s
I this situaio , despite the fa t that the hild ill T a slo aio is the te used to des i e a
sill ha e t o opies of the h o oso e ith all ea a ge e t of h o oso e ate ial i ol i g
its ge es, a health p o le a o u . This is t o o o e h o oso es. The e a e t o
e ause so e ge es e ui e the e to e o e op dife e t t pes of t a slo aio s re ipro al
f o the fathe a d o e f o the othe i o de t a slo aio s a d Ro ertso ia t a slo aio s.
to fu io o all . Re ip o al t a slo aio s o u he ate ial
Mosaicis is e ha ged et ee t o h o oso es.
Most i di iduals ha e the sa e h o oso e The e ha ge a ot i te upt a
u e a d st u tu e i all the ells i thei od , i po ta t i fo aio i the DNA a d
hethe the a e lood ells, ski ells o us le the efo e ill ot afe t the pe so s o
ells. Mosai is efe s to a situaio he e the e health o de elop e t. I so e i sta es
a e dife e t h o oso e a ou ts i dife e t ho e e , the t a slo aio a i te upt
ells of the od . a i po ta t DNA essage hi h a lead
to so e health o de elop e tal p o le s.
So e people ith a h o oso al o diio ha e These t a s-lo aio s a i ol e a of the
so e ells i the od ith the ight u e a d h o oso es a d a e ea l al a s
st u tu e a d othe ells ith a h o oso al spo ta eous, i.e. the o u du i g the
ha ge. Just as osai iles o a loo ha e a fo aio of the egg o spe o du i g o
i tu e of pate s, so eo e ho is osai fo a sho tl ate o epio .
h o oso al ha ge ill ha e a i tu e of ells
i thei od . A e a ple of a e ip o al t a slo aio a e
see i Figure . . The h o oso es ep ese ted
i this igu e sho that the e is a e ha ge of
ate ial et ee h o oso e u e a d
u e 9.
I this ase, he e the e does ot appea to ha e
ee a loss o gai of h o oso e ate ial,
the t a slo aio is des i ed as ala ed.
If a pa e t has a ala ed e ip o al
t a slo aio , the e is a isk that the
h o oso es i the eggs o spe the eate
ould pass o the i o e t a ou t of DNA
i fo aio .
This is e ause he eggs a d spe a e fo ed,
a pa e t o l passes do o e of ea h of thei
h o oso es see Figure .1 .
Figure .5: A perso with this chro oso e rearra ge e t
has a ala ced tra slocaio with the e ui ale t of two
chro oso es each of u ers 1 a d .

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Figure . : A perso with a u ala ced tra slocaio Figure . : A o ertso ia tra slocaio etwee
etwee chro oso e 1 a d chro oso e chro oso es 13 a d 1 . Chro oso es 13 a d 1 ha e
joi ed together to produce o e lo g chro oso e

I the situaio sho i Figure . , he e the The poi ts he e the eaks o u ed i the
pe so has the ala ed t a slo aio h o oso es a dis upt a i po ta t ge e a d
the sel es, a egg o spe the p odu e i pai its fu io . I this ase, the e a ell e
depe di g o hethe the a e fe ale o ale s pto s o a p o le fo the hild.
ould o tai the u ala ed h o oso e a d Ro e tso ia t a slo aio s o u he ate ial
the or al h o oso e 9. is e ha ged o l et ee h o oso es , ,
O e fe ilisaio o u s a d the othe pa e t , a d .
passes o thei op of h o oso es a d 9, the These h o oso es a e dife e t f o the othe
hild ill e d up ith a e t a pie e of h o oso es as thei e t o e e lies e ea
h o oso e 9 a d the oto of thei the ip of the h o oso e, gi i g a e sho t p
h o oso e issi g see Figure . a a d a lo g a . The a e efe ed to as
Ha i g e t a o issi g pie es of a h o oso e a ro e tri hro oso es.
a ause a u e of health a d de elop e tal A Ro e tso ia t a slo aio o u s he the e is
p o le s. It is dii ult to p edi t the e a t issues a loss of the sho t a s of t o a o e t i
a d se e it u less the e is al ead so eo e ith h o oso es a d fusio of the e ai i g t o
the e a t sa e h o oso e ha ges. lo g a s at thei e t o e es.
Fo e a ple, a hild ho has the sa e ala ed This esults i o e lo g h o oso e that o sists
t a slo aio as thei pa e t ho is health , of t o lo g a s of eithe the sa e u e ed
ould e e pe ted to also ha e o health h o oso e o t o dife e t a o e t i
issues as a esult of the sa e h o oso e h o oso es. The fused h o oso e a
ea a ge e t. o tai eithe o e o oth e t o e es f o the
Whe a hild is the i st e e of a fa il to o igi al h o oso es see Figure . .
ha e a e ip o al t a slo aio , it is ot al a s
possi le to sa that the e ill e o p o le , e e .
if it appea s to e ala ed.

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66666
Fa t Sheet | CHROMOSOME CHANGES

THE IMPACT OF A CHROMOSOME CHANGE

Fo all of the ha ges i h o oso e st u tu e
that a e e io ed a o e, it is i po ta t that
a u ate tesi g a d dis ussio of esults is
o tai ed f o a ge ei li i . The i pa t of a
h o oso e ha ge ill depe d o a fa to s
i ludi g:
Whi h h o oso e/s a e i ol ed
Whi h spe ii se io s of the h o oso e/s
a e i ol ed
Whethe the ha ge is ala ed o ot
Whethe the ha ge is a e o e i the fa il
o passed do f o a pa e t
If all the ells i the od o tai the ha ge
Figure . : A picture karyotype of the chro oso es fro
a wo a with a ` ala ced o ertso ia tra slocaio If a pa e t has a ala ed h o oso e
etwee chro oso es 1 a d 1 . ea a ge e t, the e is a ha e that the a
ha e a a that i he its a u ala ed set of
h o oso es hi h leads to health p o le s.
Despite the fa t that so e of the sho t p a is This is pa t of the dis ussio that is i po ta t to
lost i o de fo the t o h o oso es to fuse, ha e p io to falli g p eg a t i o de to e as
the e does ot usuall see to e a efe t o the i fo ed as possi le.
health of that i di idual. This is p o ided that the
Opio s to assist pa e ts like these to ha e
ha e a total a ou t of ala ed h o oso e
hild e ith ala ed h o oso es i lude
ate ial i thei ells.
tesi g efo e p eg a , usi g assisted
I Figure . , the h o oso es sho a ala ed ep odu i e te h olog to fall p eg a t a d/o
Ro e tso ia t a slo aio et ee h o o- tesi g i the i st fe o ths of a p eg a .
so es a d . O e op of h o oso e is
ata hed to the top of h o oso e .
This i di idual has t o opies of h o oso e
a d t o opies h o oso e - a ala ed
h o oso e o ple e t, si pl ea a ged.
If a pa e t has a ala ed Ro e tso ia
t a slo aio , the e is a isk that the
h o oso es i the eggs o spe the eate
ould pass o the i o e t a ou t of DNA
i fo aio .
This is e ause he eggs a d spe a e fo ed,
a pa e t o l passes do o e of ea h of thei
h o oso es see Figure .1 .

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 Fa t Sheet 5 | GENETIC CONDITIONS

Ge ei o diio s a ou t fo a of the health a d de elop e t p o le s see at i th, hildhood,

adoles e e a d adulthood.

I su ary
Ge ei o diio s a e see fro irth or de elop duri g hildhood, adoles e e
a d adulthood
There are a u er of difere t auses of ge ei o diio s a d they ary i the
ra ge of sy pto s see
Ge ei o diio s a afe t ore tha o e perso i a fa ily a d ay e passed
do through the ge eraio s a d your fa ily.

Ge ei o diio s a ause a of the health,
g o th o de elop e tal p o le s that a e
p ese t f o i th o the a ot e oi ed
u il hildhood, adoles e e o adulthood.
The e a e o e 6, k o o diio s due to a
i he ited a iaio i just o e of the , o so
ge e pai s i the hu a ell a d hu d eds of
s d o es due to a dife e e i the usual
u e o st u tu e of the h o oso es.
The e is also a g o i g u e of ge ei
o diio s ei g ide iied that a e due to a
i te a io et ee a ge ei sus epi ilit
predisposiio a d e i o e tal fa to s o
othe i lue es o the e p essio of the ge es
epige ei s . Ma of these o diio s a e
o o health p o le s.
A u e of ge ei o diio s o u oe
f e ue tl i so e populaio g oups a d i
people ith a pa i ula a est .
DNA, GENES AND CHROMOSOMES IN THE BODY
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 es.
Chro oso es a e thought of as ei g ade
up of st i gs of ge es DNA that odes fo
p otei s ith o - odi g DNA et ee the .
The h o oso es, i ludi g the ge es, a e ade
up of a he i al su sta e alled DNA
Deo i oNu lei A id a d a e fou d i the
u leus of the ell.
Apa t f o the DNA fou d o h o oso es,
a othe pla e i the ell he e DNA is fou d is i
e s all o pa t e ts alled ito ho dria the
e e g e t es of the ell .
I ea h hu a ell, e ept the egg a d spe
ells, the e a e 6 h o oso es. Ch o oso es
a e fou d i pai s a d ea h pai a ies i size. Thus
the e a e pai s of h o oso es, o e of ea h
pai ei g i he ited f o ea h pa e t.
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.
People ge e all ha e the sa e u e a d
se ue e of ge es so that the sa e essages a e
se t to the od .
Ho e e , the e a e s all a iaio s et ee
i di iduals i the i fo aio o tai ed i spe ii
DNA 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 i di iduals.
Most DNA a iaio s do ot ha e a i pa t o
ou health a d a e alled eutral aria ts o
poly orphis s poly ea s a ; orphis s
ea s fo s .
Othe DNA a iaio s a e asso iated ith a
i eased isk of a health o diio , fo e a ple
dia etes o a e .

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 Fa t Sheet 5 | GENETIC CONDITIONS

Figure 5.1: Diagra of a hu a cell showi g uclear DNA which is fou d o chro oso es i the ucleus of a cell a d the
itocho drial DNA which is fou d i the e ergy ce tres of cells k ow as itocho dria.
Figure adapted fro the NHS Naio al Ge eics a d Ge o ics Educaio Ce tre

So e DNA ha ges a ea the i st u io s a e Ge es a e also lo ated i the ito ho d ia.

i o e t so a fault p otei is ade o the
o t ol s it h is ha ged. A a iaio i a ge e
that eates a fault is alled a pathoge i aria t
o utaio . These a e uite a e.
A DNA utaio a ause a p o le fo o e ell
t pe ut ot a othe , si e ot all ells use all of
the possi le p otei s.
Whe a DNA ha ge auses a fault p otei i
ells that eed that p otei , it usuall esults i a
disease state o s pto a d is ote e og ised
as a ge ei o diio .
WHAT ARE THE CAUSES OF GENETIC
CONDITIONS?
Ge e utaio s
The e a e t o opies of ea h ge e, o e o ea h
of the h o oso e pai s lo ated i the u leus
of the ell.
A utaio i o e o oth opies of o e o o e
ge es fou d i the u leus o ito ho d ia of a
ell a e i he ited f o a pa e t.
Mutaio s a also o u eithe du i g the
fo aio of the egg o spe o du i g o soo
ate o epio .
The ge e utaio a e passed o to a hild
a d a e the di e t ause of a ge ei
o diio .
So e e a ples of ge ei o diio s aused
di e tl a ge e utaio i lude si i osis,
Hu i gto disease a d hae ophilia.
Chro oso al ha ges
It is i po ta t that the h o oso e ala e i
the ells of ou od is o e t i o de fo the
o e t a ou t of DNA a d ge es to e p ese t.

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 Fa t Sheet 5 | GENETIC CONDITIONS

Cha ges i the u e o st u tu e of I so e ge ei o diio s, ea l diag osis,

h o oso es a e i he ited f o a pa e t so ei es e e efo e the s pto s appea ,
ho has the h o oso al ha ge i thei ells. a lead to spe ii t eat e t. Fo e a ple, all
Ch o oso al ha ges a also o u du i g the e o a ies i Aust alasia a e s ee ed fo a
fo aio of the egg o spe o du i g o soo o diio alled phe lketo u ia PKU a
ate o epio . si ple lood test. Diag osis a d t eat e t ithi
So e e a ples of ge ei o diio s aused a the i st o th of life a e u ial to a oid
h o oso e ha ge i lude Do s do e i telle tual disa ilit .
he e the e is a e t a op of h o oso e Also, fo so e ases of east a e , o el
u e a d Tu e s d o e he e fe ales a e , ela o a a d p ostate a e , it a e
ha e o l o e X h o oso e i stead of the usual possi le to dete i e the p ese e of the ge e
t o opies . utaio i a fa il a d adopt st ategies to
Epige ei s dete t the a e ea l e ough to e a le
The te epige ei s o es f o the o ds epi- t eat e t to take pla e.
ea i g upo o o e a d ge ei s ea i g ou Ge ei Cou selli g
ge es. The a a ell eads the DNA essage is Ge ei ou selli g is a aila le to fa ilies a d
o t olled i a u e of a s a d o e of these i di iduals that ha e o e s a out a o diio
a s is addi g tags, like post-it otes to the i thei fa il that a ha e a ge ei asis.
DNA ases o st u tu es that DNA aps a ou d
A tea of health p ofessio als hi h a
to ha ge the i st u io s ithi a ge e.
i lude li i al ge ei ists, othe edi al
So ei es these post-it otes gi e essages to
spe ialists, ge ei ou sello s a d so ial
a i ate the ge e a d eate the p otei , hile
o ke s, o k togethe to p o ide i fo aio
othe s stop the p otei f o ei g eated.
a d suppo i e ou selli g so that fa ilies a
These tags a e ot pe a e t a d a ha ge e ete a le to u de sta d, a d adjust to, the
uite a lot o e i e. The e a e a u e of diag osis of a ge ei o diio .
dife e t t pes of tags o a s i hi h the DNA
Ge ei tesi g, if it is a aila le a d app op iate,
essages a e o t olled.
a also e o ga ised o the asis of i fo ed
This is a e si ple a of e plai i g the easo o se t. Ge ei s Se i es a e a aila le
h so e ge es a e afe ted so ethi g i th oughout Aust alasia a d p o ide ge ei
addiio to the DNA i a ell. Epige ei fa to s ou selli g to assist i i fo ed de isio aki g
a e the ause of so e ge ei o diio s. ega di g ge ei tesi g.
Support Groups
WHAT CAN BE DONE ABOUT GENETIC Suppo t g oups p o ide afe ted i di iduals a d
CONDITIONS? fa ilies ith i fo aio a out the o diio a d
Pre e io a d early dete io o u it esou es, as ell as a
Fo so e o o o diio s, p e e io a d u de sta di g a d e pathi ea . The e a e a
ea l dete io st ategies a e a aila le. This is suppo t g oups fo spe ii o diio s a d also
usuall ele a t fo people ith a fa il histo u ella suppo t g oups fo those a e
of those o diio s aused the i te a io of o diio s hi h a ot ha e a spe ii suppo t
e i o e tal fa to s ith thei i he ited g oup.
ge ei i fo aio .

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