Fa t Sheet 9 | X-LINKED RECESSIVE INHERITANCE

This fa t sheet des ri es ho ge es afe t our health he the follo a ell u derstood pater of
ge ei i herita e k o as X-li ked re essi e i herita e.

I su ary
Ge es o tai the i stru io s for gro th a d de elop e t. So e ge e ha ges ake the
ge e faulty so that the essage is ot read orre tly or is ot read at all y the ell
A ariaio i a ge e that akes it faulty is alled a utaio
A X-li ked re essi e ge e is a ge e lo ated o the X hro oso e a d efe ts
ales a d fe ales difere tly.

CHROMOSOMES, GENES AND DNA

I all the ells of our od , our ge es are fou d o
hro oso es lo g stri gs of ge es . We ha e
a thousa ds of ge es that pro ide i for aio
for our od to gro , de elop a d re ai health .
The ge e se ds essages to the ell to ake
i porta t he i al produ ts su h as protei s.
There are usuall hro oso es i ea h ell
that are arra ged i to pairs. O e of ea h pair
is passed o to us fro our other a d the other
fro our father. of these hro oso e pairs
are u ered. These u ered pairs are k o
as the autoso al hro oso es. The rd pair is
ade up of the se hro oso es alled X a d Y.
Figure 9. : Chro oso e pi ture karyotype fro a ale
Males ha e a X a d a Y hro oso e a d fe ales 46,XY.
ha e t o opies of the X hro oso e.
A autoso al ge e is a ge e lo ated o a
Si e the hro oso es o e i pairs, there are u ered hro oso e a d usuall afe ts ales
also t o opies of ea h of the ge es. The a d fe ales i the sa e a .
e epio to this rule applies to the ge es arried
o the se hro oso es alled X a d Y. A A X-li ked ge e is lo ated o the X or Y
ariaio i a ge e that reates a fault is alled a hro oso e a d afe ts ales a d fe ales
pathoge i aria t or utaio . Ge es are difere tl .
se io s of DNA that ode for the protei s our A CLOSE LOOK AT X-LINKED RECESSIVE
od eeds to fu io . INHERITANCE
This t pe of i herita e refers to the i herita e
A utaio i a ge e ill afe t the od
of a ge e utaio o the X hro oso e. Males
difere tl depe di g o ho u h it ha ges the
ha e o e X hro oso e a d o e Y hro oso e
resuli g protei , ho rii al that protei is to the
hereas fe ales ha e t o opies of the X
od a d ho u h of that protei is eeded i
hro oso e a d o Y hro oso e see Figure
the od .
9. . Due to this fa t, e ill o l ha e o e op
If a DNA ha ge o urs i o l o e of the pair of of ea h X hro oso e ge e hereas o e ill
ge es a d this auses a health o diio , it is ha e t o.
alled a do i a t utaio . If a health o diio
I o e , despite the fa t that ea h od ell has
o l o urs he oth opies of the ge e are
t o X hro oso es, o l o e is used for aki g
ha ged, this is alled a re essi e utaio .
the ge e produ t a d the other X is s it hed of.

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 Fa t Sheet 9 | X-LINKED RECESSIVE INHERITANCE

This fe ale has the ge e pair r o her X hro oso es. This ea s
that o e op of the ge e is orki g a d produ i g the orre t
ge e produ t ho e er the other op r is ot orki g.
Whe this o a has a hild, there is a 5 % ha e that she ill pass
o a orki g ge e to ea h of her hildre a d a 5 % ha e that
she ill pass o the ge e utaio hi h is ot orki g r .
Her hildre ill either ot de elop s pto s of the ge ei o diio
A see i. elo or e afe ted see ii. elo
i. For ost X-li ked re essi e o diio s, ge ei arrier fe ales ill
ot sho s pto s the sel es e ause for this ge e, ou o l
eed o e orki g op a d the X ith the orki g op is s it hed
o i ost or all of their ells.
ii. So e X-li ked re essi e o diio s a sho up i fe ales ho are
ge ei arriers. This is due to the X ith the orki g op of the
ge e ei g s it hed of or i a i ated i a or all of the ells i
the od .

This represe ts a u afe ted fe ale ho has t o orki g opies of

the ge e o her X hro oso es.

B
Whe this o a has a hild, there is a % ha e that she ill pass
o the orki g op of the ge e to all her so s a d daughters.

This represe ts a afe ted ale ho has a X-li ked re essi e ge e

o his X hro oso e. There is o orki g op of the ge e a d
therefore he ill ot e aki g the orre t ge e produ t a d ill sho
s pto s of that pari ular o diio .

C
Whe this a has a hild, there is a % ha e he ill pass o the
ge e utaio hi h is ot orki g r if he has a daughter. If he has a
so , he ill ot pass o the X hro oso e, ut rather the Y
hro oso e hi h ea s his so s ill ot ha e i herited the ge e
utaio fro hi .

This represe ts a u afe ted ale ho has a orki g op of the

ge e o his X hro oso e. His od ells a therefore ake the
orre t ge e produ t a d ill ot sho s pto s of that pari ular
o diio .

D
Whe this a has a hild, there is a % ha e he ill pass o the
orki g op of the ge e if he has a daughter. If he has a so , he ill
ot pass o the X hro oso e, ut rather the Y hro oso e hi h
ea s his so s ill ot ha e i herited the ge e utaio .
Figure 9. : Where a X-li ked re essi e ge e utaio is represe ted y r a d the orki g ge e opy y , There are
se eral possi le o i aio s a perso ould ha e a d depe di g o hether they are ale or fe ale, the efe t of the
ge ei o i aio ill difer.

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 Fa t Sheet 9 | X-LINKED RECESSIVE INHERITANCE

This s it hi g of is k o as X-i a i aio a d is So e o diio s ho e er, do afe t o e ho

thought to o ur ra do l so that i so e of the
o a s ells, o e pari ular X ill e i a i ated
a d i a other ell, that X ill e a i e hile the
other op of the X is s it hed of or i a i e.
WHAT DOES IT MEAN IF YOU HAVE AN X-LINKED
RECESSIVE GENE MUTATION?
Mutaio s o the X hro oso e are ore
o o l re essi e. This ea s that if there is a
or al orki g op of the sa e ge e i ea h ell
of a perso , the ill ot usuall sho s pto s
of the o diio .
For e a ple, i Figure 9. A, the fe ale has t
opies of the ge e e ause she has t o
hro oso es. O e of her X hro oso es has
re essi e utaio a d the other has a orki
op of the ge e.
She is a ge ei arrier a d although o l o e of
the ge e opies is orre tl se di g the
i stru io s to ake the ge e produ t, the ell
a usuall sill ork ith this redu ed a ou t.
I aX-li ked re essi e o diio s, o e
ho arr a ge e utaio ill ot ha e a
s pto s of the o diio Figure 9. Ai .
are ge ei arriers a d this is thought to e due
to the X i a i aio pro ess s it hi g of the X
ith the orki g ge e a d pre e i g that
o a fro produ i g e ough of the ge e
produ t Figure 9. Aii .
Me ho ha e the re essi e ge e utaio o
their X hro oso e do ot ha e a se o d
hro oso e ith a orki g op of the ge e.
Therefore, the ill ot e a le to se d the right
i for aio to the ells to ake the ge e produ t
a d ill e afe ted the o diio see Figure
o 9. C .
X
HOW ARE X-LINKED RECESSIVE GENE
a
MUTATIONS PASSED DOWN THROUGH
g THE FAMILY?
If the other is a arrier of a X-li ked re essive
ge e utaio
The ha es of a o a ho is a arrier of a X-
li ked re essi e ge e utaio ha i g a afe ted
hild are difere t for her so s a d daughters.

Figure 9. : X-li ked re essi e i herita e here the other Figure 9. : X-li ked re essi e i herita e here the father
is a arrier of the faulty opy of the X-li ked ge e. The X- has the faulty opy of the X-li ked ge e. The X-li ked
li ked re essi e faulty ge e opy is represe ted y r ; the re essi e faulty ge e opy is represe ted y r .
orki g opy y .

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 Fa t Sheet 9 | X-LINKED RECESSIVE INHERITANCE

I Figure 9. , here the X-li ked re essi e ge e If the father is afe ted by a X-li ked re essive
utaio is represe ted r a d the orki g ge ei o diio
op , the other is a arrier of a X-li ked If the father is afe ted a X-li ked re essi e
re essi e ge e utaio a d the father has o l ge ei o diio , the ha e of passi g o the
a orki g op of the ge e. There are four re essi e ge e utaio is difere t for his so s
possi le o i aio s i e er preg a of the a d daughters.
ge ei i for aio that the hild a re ei e As sho i Figure 9.4, there are four possi le
fro the pare ts. o i aio s i e er preg a of the ge ei
This ea s that i e er preg a there is i for aio that the hild a re ei e fro the

pare ts. The father passes his Y hro oso e to

ha e i , 5% ha e that a so ill
his so s a d his X hro oso e to his daughters.
i herit the Y hro oso e fro his father
a d X-li ked re essi e ge e utaio fro This ea s that i e er preg a
his other. I this ase, o orki g ge e or All so s ill i herit the orki g X-li ked
the right a ou t of the ge e produ t ill e ge e opy fro their other a d the Y
a le to e ade his ells. He ill hro oso e fro their father a d ill
therefore e afe ted the o diio therefore ot ha e the o diio
ha e i , 5% ha e that a so ill All daughters ill i herit a orki g opy of
i herit the Y hro oso e fro his father the X-li ked ge e fro their other a d X-
a d the orki g opy of the X-li ked ge e li ked re essi e ge e utaio fro their
fro his other. He ill ot e afe ted father. The ill e arriers of the X-li ked
the o diio re essi e ge e utaio a d a pass the
ha e i , 5% ha e that a daughter fault ge e o to their hildre . The ill
ill i herit oth orki g opies of the X- usuall e u afe ted the o diio .
li ked ge es: o e op fro her father a d WHAT GENETIC CONDITIONS ARE CAUSED BY
o e fro her other. I this ase she ill ot AN X-LINKED RECESSIVE GENE MUTATION?
o l e u afe ted the o diio ut she The ost o o o diio s that are aused
ill also NOT e a arrier of the X-li ked a X-li ked re essi e ge e utaio are
re essi e ge e utaio hae ophilia, us ular d stroph a d fragile X
ha e i , 5% ha e that a daughter s dro e.
ill i herit fro her father the orki g opy Usuall fe ale ge ei arriers of a X-li ked
of the X-li ked ge e a d the X-li ked re essi e ge e utaio do ot sho a
re essi e ge e utaio fro her other. s pto s of the o diio a d do ot de elop
She ill e a ge ei arrier of the o diio health pro le s due to ei g a ge ei arrier.
like her other a d ill usuall e
u afe ted. I di aio s that a o a a e a ge ei
arrier of a X-li ked re essi e ge e utaio
I su ar , if preg a t ith a so , there is a i lude ha i g a fa il histor of a o diio that
5 % ha e the ill e afe ted the usuall o l afe ts ales.
o diio a d if preg a t ith a daughter, a 5 %
ha e the ill e a ge ei arrier of the
o diio .

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.ge ei s.edu.au Updated 8 Ma
 Fa t Sheet 1 | X-LINKED DOMINANT INHERITANCE

This fa t sheet des ri es ho ge es afe t our health he the follo a ell u derstood pater of
ge ei i herita e k o as X-li ked do i a t i herita e.
I su ary
Ge es o tai the i stru io s for gro th a d de elop e t. So e ge e ha ges
ake the ge e faulty so that the essage is ot read orre tly or is ot read at
all y the ell. A ariaio i a ge e that akes it faulty is alled a utaio
A X-li ked do i a t ge e is a ge e lo ated o the X hro oso e a d efe ts
ales a d fe ales difere tly.

CHROMOSOMES, GENES AND DNA

I all the ells of our od , our ge es are fou d o
hro oso es lo g stri gs of ge es . We ha e
a thousa ds of ge es that pro ide i for aio
for our od to gro , de elop a d re ai health .
The ge e se ds essages to the ell to ake
i porta t he i al produ ts su h as protei s.
There are usuall hro oso es i ea h ell
that are arra ged i to pairs. O e of ea h pair
is passed o to us fro our other a d the other
fro our father. of these hro oso e pairs
are u ered. These u ered pairs are k o
as the autoso al hro oso es. The rd pair is
Figure . : Chro oso e pi ture karyotype fro a ale
ade up of the se hro oso es alled X a d Y. 46,XY.
Males ha e a X a d a Y hro oso e a d fe ales
ha e t o opies of the X hro oso e.
A X-li ked ge e is lo ated o the X or Y
Si e the hro oso es o e i pairs, there are hro oso e a d afe ts ales a d fe ales
also t o opies of ea h of the ge es. The difere tl .
e epio to this rule applies to the ge es arried
o the se hro oso es alled X a d Y. A A CLOSE LOOK AT X-LINKED DOMINANT
ariaio i a ge e that reates a fault is alled a INHERITANCE
pathoge i aria t or utaio . Ge es are This t pe of i herita e refers to the i herita e
se io s of DNA that ode for the protei s our of a ge e utaio o the X hro oso e. Males
od eeds to fu io . ha e o e X hro oso e a d o e Y hro oso e
hereas fe ales ha e t o opies of the X
A utaio i a ge e ill afe t the od
hro oso e a d o Y hro oso e. Due to this
difere tl depe di g o ho u h it ha ges the
fa t, e ill o l ha e o e op of ea h X
resuli g protei , ho rii al that protei is to the
hro oso e ge e hereas o e ill ha e t o.
od a d ho u h of that protei is eeded i
See Figure . .
the od . If a DNA ha ge o urs i o l o e of
the pair of ge es a d this auses a health I o e , despite the fa t that ea h od ell has
o diio , it is alled a do i a t utaio . If a t o X hro oso es, o l o e is used for aki g
health o diio o l o urs he oth opies of the ge e produ t a d the other X is s it hed of.
the ge e are ha ged, this is alled a re essi e This s it hi g of is k o as X-i a i aio a d is
utaio . thought to o ur ra do l so that i so e of the
A autoso al ge e is a ge e lo ated o a o a s ells, o e pari ular X ill e i a i ated
u ered hro oso e a d usuall afe ts ales a d i a other ell, that X ill e a i e hile the
a d fe ales i the sa e a . other op of the X is s it hed of or i a i e.

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 Fa t Sheet 1 | X-LINKED DOMINANT INHERITANCE

WHAT DOES IT MEAN IF YOU HAVE AN Whe a ge e utaio is do i a t ho e er,

X-LINKED DOMINANT GENE MUTATION? the od a ot ork or all ith less tha
Mutaio s o the X hro oso e are ore the usual a ou t of orki g ge e produ t. The
o o l re essi e. This ea s that if there is a X-li ked do i a t utaio appears to o erride
or al orki g op of the sa e ge e i ea h or do i ate the u ha ged i for aio i the
ell of a perso , the ill ot usuall sho orki g op of the ge e. It is er rare for a
s pto s of the o diio . o a to ha e a do i a t ge e utaio o oth
opies of her X hro oso e.

This fe ale has the ge e pair Dd o her X hro oso es. This ea s that o e op
of the ge e is orki g d a d produ i g the orre t ge e produ t ho e er the
other op D is ot orki g.
Whe this o a has a hild, there is a 5 % ha e that she ill pass o a orki g
A d ge e to ea h of her hildre a d a 5 % ha e that she ill pass o the ge e
utaio hi h is ot orki g D .
The ill the sel es ha e the ge ei o diio aused the X-li ked do i a t
utaio e ause the D do i ates the orki g op of the ge e a d lo ks the
orre t ge e produ t fro ei g used the ells.

This represe ts a u afe ted fe ale ho has t o orki g opies dd of the ge e

o her X hro oso es.

B
Whe this o a has a hild, there is a % ha e the ill pass o the orki g
op of the ge e if the ha e a so s a d daughters.

This represe ts a afe ted ale ho has a X-li ked do i a t ge e o his X

hro oso e. There is o orki g op of the ge e a d therefore he ill ot e
aki g the orre t ge e produ t a d ill sho s pto s of that pari ular
o diio .

C
Whe this a has a hild, there is a % ha e that he ill pass o the ge e
utaio hi h is ot orki g D if he has a daughter. If he has a so , he ill ot
pass o the X hro oso e, ut rather the Y hro oso e hi h ea s his so s ill
ot ha e i herited the ge e utaio fro hi .

This represe ts a u afe ted ale ho has a orki g op of the ge e o his X

hro oso e. His od ells a therefore ake the orre t ge e produ t a d ill
ot sho s pto s of that pari ular o diio .

D
Whe this a has a hild, there is a % ha e that he ill pass o the orki g
op of the ge e if he has a daughter. If he has a so , he ill ot pass o the X
hro oso e, ut rather the Y hro oso e, hi h ea s his so s ill ot ha e
i herited the ge e utaio .

Figure . : Where a X-li ked do i a t ge e utaio is represe ted y D a d the orki g ge e opy y d , There are
se eral possi le o i aio s a perso ould ha e a d depe di g o hether they are ale or fe ale, the efe t of
the ge ei o i aio ill difer

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 Fa t Sheet 1 | X-LINKED DOMINANT INHERITANCE

Figure . : X-Li ked do i a t i herita e here the Figure . : X-li ked do i a t i herita e here the
other arries the faulty X-li ked do i a t ge e a d is father arries the faulty X-li ked do i a t ge e a d is
afe ted. The faulty opy of the X-li ked ge e is represe ted afe ted. The faulty opy of the X-li ked ge e is represe ted
y D , the orki g opy y d . y D , the orki g opy y d .

HOW ARE X-LINKED DOMINANT GENE He ill pass o the X-li ked do i a t ge e
MUTATIONS PASSED DOWN THROUGH utaio o the X hro oso e to all his
THE FAMILY? daughters a d his Y hro oso e to all his so s.
If the other is afe ted by a o diio aused by The u afe ted other ill o l gi e orki g
a X-li ked do i a t ge e utaio opies of the ge e to her hildre . There are four
Whe the other is afe ted a o diio possi le o i aio s of the ge ei i for aio
aused a X-li ked do i a t ge e utaio the hild a re ei e fro the pare ts Figure
as i Figure . A , there are four possi le .4 .
o i aio s of the ge ei i for aio the hild This ea s that i e er preg a : No e of
a re ei e fro the pare ts Figure . . his so s a i herit the X-li ked do i a t
This ea s that i e er preg a there is a: ge e utaio si e the so o l i herits the
ha e i ha es i or 5 % ha e Y hro oso e fro the father. The ill
that oth her so s a d daughters ill i herit i herit the orki g ge e opy fro their
the X-li ked do i a t ge e utaio fro other. No e of their so s ill ha e the
her a d e afe ted the o diio . No o diio
orki g ge e produ t or the right a ou t of All of their daughters ill i herit the orki g
the ge e produ t ill e a le to e ade ge e opy fro their other a d the X-
the ells li ked do i a t ge e utaio fro their
ha e i ha es i or 5 % ha e father. All of their daughters ill ha e the
that her hildre oth so s a d daughters o diio .
ill i herit the orki g op of the ge e d
fro her a d ill ot e afe ted the WHAT GENETIC CONDITIONS ARE CAUSED BY AN
o diio X-LINKED DOMINANT GENE MUTATION?
There are er fe o diio s that ha e ee
If the father is afe ted by a o diio aused by sho to follo a pater of X-li ked do i a t
a X-li ked do i a t ge e utaio i herita e. et s dro e, hi h is a o diio
Whe the father is afe ted a o diio aused that auses ph si al a d i telle tual disa ilit is
a X-li ked do i a t ge e utaio as i o e e a ple.
Figure . C .

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 Fa t Sheet 11 | ENVIRONMENTAL AND GENETIC INTERACTIONS

This fa t sheet des ri es the i tera io et ee our ge es a d the e iro e t to ri g a out ertai
health pro le s. The o i aio of ge ei s a d e ter al fa tors is so ei es alled ulifa torial
i herita e.

I su ary
Mulifa torial i herita e refers to the pater of i herita e of ertai
health pro le s aused y a o i aio of oth ge ei a d other fa tors
Ge es o tai the i stru io s for gro th a d de elop e t. So e ge e ha ges
ake the ge e faulty so that the essage is ot read orre tly or is ot read at all
y the ell. A ariaio i a ge e that akes it faulty is alled a utaio
A perso ay e at a i reased risk of de elopi g a ulifa torial health
o diio due to ha i g a ge e utaio , ut u less other fa tors are also prese t,
they ay e er de elop sy pto s of the o diio .

CELLS, DNA AND GENES

Our odies are ade up of illio s of ells. Ea h
ell o tai s a o plete op of our ge ei
i for aio or DNA. Our DNA o tai s the
i stru io s for gro th a d de elop e t a d is
pa kaged i to hro oso es that o tai all our
ge es. A ariaio i a ge e that reates a fault is
alled a pathoge i aria t or utaio . Ge es
are se io s of DNA that ode for the protei s our
od eeds to fu io . A utaio i a ge e ill
afe t the od difere tl depe di g o ho
u h it ha ges the resuli g protei , ho rii al
that protei is to the od a d ho u h of that
protei is eeded i the od . Figure 9. sho s
Figure . : Chro oso e pi ture karyotype fro a ale
ho hro oso es a d therefore ge es, o e i 46,XY.
pairs.

A CLOSE LOOK AT MULTIFACTORIAL For e a ple, ot all o e ho ha e a

INHERITANCE hereditar reast a d o aria a er ge e
Mulifa torial i herita e refers to the pater of utaio ill de elop reast or o aria a er.
i herita e of ertai o diio s due to a The utaio alo e is ot o pletel pe etra t.
o i aio of oth ge ei a d other fa tors The reaso for this i o plete pe etra e of the
that a i lude i ter al fa tors su h as agei g, o diio is ost likel due to the i tera io
a d e posure to e ter al e iro e tal fa tors et ee the i for aio i the ge e utaio
su h as diet, lifest le, a d e posure to he i als ith the i for aio i o e or ore other ge es
or other to i s Figure . a d ith other e iro e tal fa tors.
Mulifa torial o diio s do ot al a s de elop
despite the prese e of a ge ei utaio hi h
i reases the perso s risk.

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 Fa t Sheet 11 | ENVIRONMENTAL AND GENETIC INTERACTIONS

Figure . : A diagra ai represe taio of the i tera io et ee ge ei a d e iro e tal fa tors

Table . : Mulifa torial o diio s: The o diio s listed are so e of the health pro le s i hi h
ge ei s plays a role ut is ot al ays e ough o its o to ri g a out sy pto s

Birth Defe ts: let palate/lip, eural tu e defe ts su h Ca er: o el, reast, o aria , o el, ela o a a d
as spi a iida prostate

Cardio as ular o diio s: high lood pressure, so e Meta oli : dia etes
auses of heart disease, high holesterol

Neurologi al/psy hiatri o diio s: Alzhei er disease Mus ular/skeletal: arthriis, rheu ai disorders,
i later life, s hizophre ia, ipolar disorder osteoporosis

Ski o diio s: psoriasis, oles, e ze a Respiratory: asth a, allergies, e ph se a

So e of the o diio s listed i Ta le . are i lude ou a d/or o e or ore lood relai es

ell u derstood a d there a e ge ei tesi g ho ha e ee afe ted a o diio ,
a aila le to deter i e hether a perso has a pari ularl at a ou ger tha e pe ted age.
ge e utaio hi h predisposes the to Do u e i g the health histor of fa il
de elopi g the o diio . e ers lood relai es o er se eral
ge eraio s is i porta t i deter i i g if a
ARE MULTIFACTORIAL GENETIC CONDITIONS o diio is ru i g i the fa il . Ask a out the
PASSED DOWN THROUGH THE FAMILY?
fa il histor of o oth our others a d
It a e possi le to deter i e if ou or other
fathers side of the fa il . It is i porta t to ote:
e ers of our fa il are at risk for de elopi g
a pari ular ulifa torial o diio Ho the i di idual is related to ou
do u e i g our fa il health histor i detail. The t pe o diio the ha e or had
So e of the lues that there a e a The age of the i di idual he the ere irst
ulifa torial ge ei o diio i our fa il diag osed ith the o diio .

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.ge ei s.edu.au Updated Septe er 5
 Fa t Sheet 11 | ENVIRONMENTAL AND GENETIC INTERACTIONS

If there is a ulifa torial ge ei o diio This approa h is o l possi le for those fe

ide iied i a fa il , su h as i herited reast a d o diio s here the e iro e tal trigger, or
o aria a er, it a e possi le for i di iduals so e of the triggers, ha e ee ide iied.
to ha e ge ei tesi g to deter i e hether
It is lear that for a o o a d rare
the ha e the predisposi g ge e utaio .
o diio s su h as those listed i Ta le 9. , si pl
It is i porta t to re e er though that for so e i herii g o e or ore ge e utaio s asso iated
people, despite ha i g a ge e utaio , reast ith a pari ular o diio is ot e ough for that
a d/or o aria a er ill ot de elop u less o diio to de elop.
other ge es utate o er the perso s lifei e.
The perso s i herited ge ei i for aio a
Possi le triggers for other ge es to utate
ake the sus epi le predisposed to the
i lude fa tors i our i ter al a d e ter al
o diio ut if other steps do ot o ur duri g
e iro e ts as ell as the i pa t of agei g.
their life the the o diio ill e er de elop.
Other o diio s that ru i the fa il a e
The ield of a er ge ei s has pro ided so e
due to e posure to the sa e e iro e tal
lues as to ho the path a orks for so e
fa tor su h as poor ualit air or ater or poor
a ers to de elop a d this a e the odel for
utriio ; e.g. ha i g a u er of fa il
other ulifa torial o diio s.
e ers ho s oke a lead to e posure to
to i s fro passi e s oki g ith its esta lished
Dis uss your fa ily history ith your do tor
health i pa t.
Dis uss our perso al a d fa il histor ith our
I so e ases, e posure to a e iro e tal GP if ou are o er ed that a o diio is i our
fa tor ill e the o l reaso for a o diio to fa il .
ru i a fa il ; i.e. ge ei fa tors a ot e
i ol ed at all. Ge ei ou selli g a d risk a age e t
So e i di iduals ith a stro g fa il histor of a
CAN SOME MULTIFACTORIAL GENETIC ertai o diio a re uire referral their GP
CONDITIONS BE PREVENTED? to their lo al ge ei ou selli g ser i e. Their risk
Mulifa torial o diio s i ol e a i herited of de elopi g the o diio , ased o their fa il
ge ei predisposiio a d o e or ore other histor , a e esi ated a d dis ussed i ore
triggers. A o ious pre e i e approa h is to detail.
odif the k o triggers i those i di iduals
ho are sus epi le due to their fa il histor or
The ge ei ou selli g tea a e a le to:
ha i g a predisposi g utaio .
Clarif their ha e of de elopi g a o diio
For a fe o diio s, these triggers ha e ee
ased o fa il histor
ide iied.
A s er a uesio s the ha e a out their
A la k of the ita i folate i a de elopi g fa il histor

a s e iro e t has ee li ked to a Dis uss hat edi al he k-ups are
i reased ha e that the a ill ha e a appropriate

eural tu e defe t su h as spi a iida.
Dis uss the li itaio s, pote ial e eits,
Supple e taio folate i o e pre-
disad a tages a d appropriate ess of ge ei
preg a a d i earl preg a a
tesi g
sig ii a tl redu e the u er of a ies
I so e ases, pre e i e easures su h as
or ith this o diio
High dietar holesterol is a fa tor i edi aio , diet or lifest le ha ges a
i reased risk for ardio as ular disease a d help.
o esit has also ee li ked to i reased risk
for dia etes t pe . E er ise a d a health
diet are a efe i e i ter e io .

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