Fa t Sheet 7 | AUTOSOMAL 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 autoso al re essi 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
If a ge ei o diio o ly o urs he oth opies of the ge e are ha ged,
this is alled a re essive utaio
A autoso al ge e is a ge e lo ated o a u ered hro oso e a d usually
afe ts ales a d fe ales i the sa e ay.

CHROMOSOMES, GENES AND DNA If a health o diio o l o urs he oth opies

I all the ells of our od , our ge es are fou d o of the ge e are ha ged, this is alled a re essi e
hro oso es lo g stri gs of ge es . We ha e utaio .
a thousa ds of ge es that pro ide
i for aio for our od to gro , de elop a d We all ha e a u er of re essi e ge e
re ai health . The ge e se ds essages to the utaio s hi h are hidde due to the fa t
ell to ake i porta t he i al produ ts su h as that e ha e a a kup orki g opy of the
protei s. ge e a d therefore the orre t ge e produ t is
There are usuall hro oso es i ea h ell ade.
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 A autoso al ge e is a ge e lo ated o a
fro our father. of these hro oso e pairs u ered hro oso e a d usuall afe ts ales
are u ered. These u ered pairs are k o a d fe ales i the sa e a .
as the autoso al hro oso es. The rd pair is
A X-li ked ge e is lo ated o the X or Y
ade up of the se hro oso es alled X a d Y.
hro oso e a d afe ts ales a d fe ale
Males ha e a X a d a Y hro oso e a d fe ales
difere tl .
ha e t o opies of the X hro oso e.
Si e the hro oso es o e i pairs, there are
also t o opies of ea h of the ge es. The
e epio to this rule applies to the ge es arried
o the se hro oso es alled X a d Y. 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 .
If a DNA ha ge o urs i o l o e of the pair of Figure . : Chro oso e pi ture karyotype fro a ale
ge es a d this auses a health o diio , it is 6,XY.
alled a do i a t utaio .

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 Fa t Sheet 7 | AUTOSOMAL RECESSIVE INHERITANCE

A CLOSE LOOK AT AUTOSOMAL RECESSIVE
INHERITANCE
This t pe of i herita e refers to the i herita e
of a re essi e ge e utaio o a autoso e o e
of the hro oso es u ered - . See Figure
. .
There are t o opies of e er autoso al ge e.
Both opies of the ge e se d a essage to the
ells to produ e a pari ular produ t su h as a
protei . I di iduals ho ha e a utaio o o e
ge e, a d a orki g op of that ge e o the
other part er hro oso e, are said to e ge ei
arriers of the utaio for a pari ular o diio .
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.
WHAT DOES IT MEAN IF YOU ARE A GENETIC
CARRIER OF AN AUTOSOMAL RECESSIVE GENE
MUTATION?
Ge ei arriers for the great ajorit of
autoso al re essi e ge ei o diio s do ot
sho a s pto s of the o diio a d do ot
de elop health pro le s due to ei g a ge ei
arrier.
As e io ed a o e, e all ha e a u er of
re essi e ge e utaio s hi h are hidde due to
the fa t that e ha e a a kup orki g op of
the ge e a d therefore the orre t ge e produ t is
ade.
If a perso has oth of their ge es for a ge ei
o diio o tai i g a re essi e utaio , the do
ot ha e the a ilit to ake the orre t ge e
produ t a d ill ha e s pto s of the ge ei
o diio .

U afe ted No -Carrier

This perso has the ge e pair . This ea s that oth opies of the ge e
are orki g a d produ i g the orre t ge e produ t. The ill ot de elop
A
s pto s of the ge ei o diio aused this ge e
Whe this perso has a hild, the ill o l pass o a orki g ge e to
ea h of their hildre

U afe ted Ge ei Carrier

This perso has the ge e pair r. 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. The ill ot de elop s pto s of the ge ei o diio
B e ause for this ge e, ou o l eed o e orki g op . This perso is a
ge ei arrier for the ge ei o diio aused this ge e
Whe this perso has a hild, there is a % ha e the ill pass o a
orki g ge e to ea h of their hildre a d a % ha e the ill pass o
the ge e utaio hi h is ot orki g r

Afe ted or predisposed to a autoso al re essi e o diio

This perso has the ge e pair rr. This ea s that oth opies of the ge e
are ot orki g a d the are u a le to produ e a of the ge e produ t.
The ill de elop s pto s of the ge ei o diio aused this ge e.
C
This perso is said to e afe ted the ge ei o diio aused this
ge e
Whe this perso has a hild, the ill o l pass o the ge e utaio
hi h is ot orki g r

Figure . : Where a autoso al re essi e ge e utaio is represe ted y r a d the orki g ge e opy y , There are three
possi le o i aio s a perso ould ha e. This is regardless of hether the perso is a ale or fe ale.

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 Fa t Sheet 7 | AUTOSOMAL RECESSIVE INHERITANCE

Therefore, for autoso al re essi e o diio s, Whe t o arriers of the sa e re essi e ge e

ha i g o e ge e utaio does ot usuall ause utaio ha e a a , ea h pare t has a ha e
a health pro le . of passi g o either the ge e utaio or the
orki g op of the ge e to the a .
You ill o l get s pto s of the ge ei
o diio if oth of our ge es ha e a utaio As sho i Figure . , here the ge e o tai i g
See Figure . A, B a d C . a re essi e utaio is represe ted r a d the
orki g op , there are four possi le
HOW ARE AUTOSOMAL RECESSIVE GENE o i aio s of the ge ei i for aio to e
MUTATIONS PASSED DOWN THROUGH THE passed o i e er preg a .
FAMILY?
Hu a s eed TWO opies of ea h ge e i order This ea s that i e er preg a there is:
to ha e the orre t ala e of DNA ith the ha e i % ha e that the ill ha e
e epio of the se hro oso e ge es . a hild ho i herits oth opies of the
O e op of ea h ge e is passed to a hild fro re essi e ge e utaio fro his/her
their other a d the other fro the father. pare ts. I this ase, o orki g ge e produ t
ill e produ ed a d their hild ill e
The possi le ge e o i aio s a pare t a afe ted the o diio aused this ge e
ha e for a re essi e ge e are represe ted the
i di iduals i Figure . . ha ei % ha e that their hild ill
i herit oth opies of the orki g ge e a d
Whe a a y is o ei ed, ea h pare t passes ill e u afe ted the o diio a d ot a
o o e op of ea h of his or her ge es to the ge ei arrier
a y. Therefore the a y is a i ture of the ha e i ha es i or % ha e
ge ei i for aio fro ea h of his/her that their hild ill i herit the re essi e ge e
pare ts. utaio a d the orki g opy of the ge e
fro the pare ts a d he/she ill e a
If both pare ts are ge ei arriers for the sa e u afe ted ge ei arrier of the o diio ,
autoso al re essive ge e utaio just like the pare ts.
Both the other a d father ould ha e the
If o e pare t is a ge ei arrier for the
ge ei ake-up of the perso i Figure . B autoso al re essive ge e utaio
O e pare t ould ha e the ge ei ake-up of
the perso i Figure . A a d the other ould
ha e the ge ei ake-up of the perso i Figure
. B.
The out o es for ea h preg a are the sa e
hether it is the other ho is a ge ei arrier
as i Figure . or the father.
This ea s that i e er preg a , there is:
No ha e that the ouple ill ha e a a
afe ted ith the ge ei o diio aused
this pari ular ge e
ha e i ha es i or % ha e
that the ill ha e a hild ho i herits oth
opies of the orki g ge e fro his/her
Figure . : Autoso al re essi e i herita e he oth pare ts. I this ase, the hild ill e
pare ts are u afe ted ge ei arriers for the o diio . u afe ted the o diio
The faulty opy of the ge e o tai i g a re essi e utaio
is represe ted y r ; the orki g opy of the ge e y .

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 Fa t Sheet 7 | AUTOSOMAL RECESSIVE INHERITANCE
Figure . : Autoso al re essi e i herita e he o ly o e
of the pare ts is a u afe ted ge ei arrier for the
o diio . The faulty opy of the ge e o tai i g a
re essi e utaio is represe ted y r ; the orki g opy of
the ge e y .
ha e i ha es i or % ha e
that their hild ill i herit the re essi e ge e
utaio a d the orki g opy of the ge e
fro the pare ts a d he/she ill e a
u afe ted ge ei arrier of the o diio .
If o e pare t is a afe ted by the autoso al
re essive o diio
There are t o possi le s e arios:
i O e pare t ould ha e the ge ei ake-up
of the perso i Figure . A o - arrier a d
the other ould ha e the ge ei ake-up of
the perso i Figure . C or
ii O e pare t ould ha e the ge ei ake-up
of the perso i Figure . B u afe ted
ge ei arrier a d the other ould ha e the
ge ei ake-up of the perso i Figure . C.
For s e ario i) the out o es for ea h preg a
are the sa e hether it is the other ho is
afe ted as i Figure . or the father.
This ea s that i e er preg a there is:
.ge ei s.edu.au
Figure . : Autoso al re essi e i herita e he o e of
the pare ts is afe ted or predisposed to de elop the
o diio a d the other pare t is a u afe ted o - arrier
for the o diio . The faulty opy of the ge e o tai i g a
re essi e utaio is represe ted y r ; the orki g opy of
the ge e y .
ha e i % ha e that their hild
ill i herit the re essi e ge e utaio a d
the orki g opy of the ge e fro the
pare ts a d he/she ill e a u afe ted
ge ei arrier of the o diio .
For s e ario ii) the out o es for ea h preg a
are the sa e hether it is the other ho is
afe ted as i Figure .6 or the father.
This ea s that i e er preg a , there is:
ha e i ha es i or % ha e
that the ill ha e a hild ho i herits oth
opies of the re essi e ge e utaio fro
his/her pare ts. I this ase, the hild ill e
afe ted or predisposed to de elop the
o diio
ha e i ha es i or % ha e
that their hild ill i herit the re essi e ge e
utaio a d the orki g opy of the ge e
fro the pare ts a d he/she ill e a
u afe ted ge ei arrier of the o diio .
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 Fa t Sheet 7 | AUTOSOMAL RECESSIVE INHERITANCE
Figure . : Autoso al re essi e i herita e he o e of
the pare ts is afe ted or predisposed to de elop the
o diio a d the other pare t is a u afe ted ge ei
arrier for the o diio . The faulty opy of the ge e
o tai i g a re essi e utaio is represe ted y r ; the
orki g opy of the ge e y .
If both pare ts are afe ted by the autoso al
re essive o diio
Both the other a d father ould ha e the
ge ei ake-up of the perso i Figure . C.
This ea s that i e er preg a there is:
ha e i % ha e that the ill
ha e a hild ho i herits oth opies of the
re essi e ge e utaio fro his/her
pare ts. like the pare ts
Ea h hild ill e afe ted or predisposed to
de elopi g the o diio , just pare ts are
afe ted or predisposed to de elop the
o diio .
WHAT GENETIC CONDITIONS ARE CAUSED BY AN
AUTOSOMAL RECESSIVE GENE MUTATION?
The ost o o o diio s that are aused
a autoso al re essi e ge e utaio are si
i rosis, thalassae ia, hae o hro atosis a d
Ta Sa hs disease.
.ge ei s.edu.au
Figure . : Autoso al re essi e i herita e he oth
pare ts are afe ted or predisposed to de elop the
o diio .
Usuall ge ei arriers of autoso al re essi e
ge ei o diio s do ot sho a s pto s of
the o diio a d do ot de elop health
pro le s due to ei g a ge ei arrier. It is
possi le ho e er to test a i di idual to
deter i e hether the are a arrier of ertai
re essi e utaio s.
I di aio s that the i di idual a e a ge ei
arrier of a autoso al re essi e utaio
i lude:
Ha i g a fa il histor of a o diio that
follo s a autoso al re essi e pater of
i herita e
Where a o diio is ore o o i
people of ertai eth i or ultural
a kgrou ds a d therefore the ha e of a
perso fro these populaio groups ei g a
arrier is u h higher tha i others.
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 Fa t Sheet 8 | AUTOSOMAL 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 autoso al do i a t.
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
If a ge ei o diio o urs he o ly o e opy of the ge e is ha ged,
this is alled a do i a t utaio
A autoso al ge e is a ge e lo ated o a u ered hro oso e a d usually
afe ts ales a d fe ales i the sa e ay.

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.
Males ha e a X a d a Y hro oso e a d fe ales Figure 8. : Chro oso e pi ture karyotype fro a ale
6,XY.
ha e t o opies of the X hro oso e.
Si e the hro oso es o e i pairs, there are A autoso al ge e is a ge e lo ated o a
also t o opies of ea h of the ge es. The u ered hro oso e a d usuall afe ts ales
e epio to this rule applies to the ge es arried a d fe ales i the sa e a .
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
od eeds to fu io . A utaio i a ge e ill
A CLOSE LOOK AT AUTOSOMAL DOMINANT
afe t the od difere tl depe di g o ho
INHERITANCE
u h it ha ges the resuli g protei , ho rii al
This t pe of i herita e refers to the i herita e
that protei is to the od a d ho u h of that
of a do i a t ge e utaio o a autoso e
protei is eeded i the od .
o e of the hro oso es u ered - . See
If a DNA ha ge o urs i o l o e of the pair of Figure 8. .
ge es a d this auses a health o diio , it is
There are t o opies of e er autoso al ge e.
alled a do i a t utaio . If a health o diio
Both opies of the ge e se d a essage to the
o l o urs he oth opies of the ge e are
ells to produ e a pari ular produ t su h as a
ha ged, this is alled a re essi e utaio .
protei .

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 Fa t Sheet 8 | AUTOSOMAL DOMINANT INHERITANCE

I di iduals ho ha e a do i a t utaio o o e HOW ARE AUTOSOMAL DOMINANT GENE

ge e, a d a orki g op of that ge e o the
other part er hro oso e, ill e afe ted
that o diio despite the orki g op .
Therefore although 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 other op ith the do i a t
utaio is ot se di g the orre t essage a d
o errides the a io of the orki g ge e.
WHAT DOES IT MEAN IF YOU HAVE AN
AUTOSOMAL DOMINANT GENE MUTATION?
If a perso has a autoso al do i a t ge e
utaio , the do ot ha e the a ilit to ake
e ough of the orre t ge e produ t a d ill ha e
s pto s of the ge ei o diio fro irth or
e predisposed to de elopi g the o diio later
i life depe di g o the ge e i ol ed .
MUTATIONS PASSED DOWN THROUGH THE
FAMILY?
Hu a s eed t o opies of ea h ge e i order to
ha e the orre t ala e of DNA ith the
e epio of the se - hro oso e ge es .
O e op of ea h ge e is passed to a hild fro
their other a d the other fro the father. The
possi le ge e o i aio s a pare t a ha e for
a do i a t ge e are represe ted the
i di iduals i Figure 8. .
If o e pare t has a autoso al do i a t ge e
utaio
O e pare t ould ha e the ge ei ake-up of
the perso i Figure 8. A a d the other ould
ha e the ge ei ake-up of the perso i Figure
8. B.
The out o es for ea h preg a are the sa e
hether it is the father ho has the do i a t
ge e utaio as i Figure 8. or the other.

Afe ted or predisposed to a ge ei o diio

This perso has the ge e pair Dd. 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 D is
A ot orki g. The a de elop s pto s of the ge ei o diio e ause for
this ge e, ou eed oth opies to e orki g
Whe this perso has a hild, there is a % ha e the ill pass o a orki g
d ge e to ea h of their hildre a d a % ha e the ill pass o the ge e
utaio hi h is ot orki g D

U afe ted perso

This perso has the ge e pair dd. This ea s that oth opies of the ge e are
B orki g a d the are a le to produ e the ge e produ t. The ill ot de elop
s pto s of the ge ei o diio aused this ge e
Whe this perso has a hild, the ill o l pass o the orki g ge e op d

Afe ted or predisposed to a ge ei o diio

This perso has the ge e pair DD. This ea s that oth opies of the ge e are
C ot orki g a d o e of the orre t ge e produ t is ei g ade
This perso has a dou le op of a do i a t utaio a d is ote ore
se erel afe ted the o diio tha so eo e ith just o e do i a t
utaio Dd

Figure 8. : Where a autoso al do i a t ge e utaio is represe ted y D a d the orki g ge e opy y d , There are
three possi le o i aio s a perso ould ha e. This is regardless of hether the perso is a ale or fe ale.

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 Fa t Sheet 8 | AUTOSOMAL DOMINANT INHERITANCE

Figure 8. Autoso al do i a t i herita e he o e Figure 8. Autoso al do i a t i herita e he oth

pare t arries the autoso al do i a t faulty ge e opy. pare ts arry the autoso al do i a t faulty ge e opy.
The autoso al do i a t faulty ge e opy is represe ted y The autoso al do i a t faulty ge e opy is represe ted y
D ; the orki g opy of the ge e y d . D ; the orki g opy of the ge e y d .

This ea s that i e er preg a there is: ha e i ha es i or % ha e

that their hild ill i herit the do i a t

ha e i ha es i or % ha e
ge e utaio a d the orki g opy of the
that the ill ha e a hild ho i herits oth
ge e fro the pare ts a d he/she ill e
opies of the orki g ge e fro his/her
afe ted or predisposed to de elopi g the
pare ts. I this ase, the hild ill e
o diio aused the ge e utaio , like
u afe ted the o diio
their pare ts

ha e i ha es i or % ha e
ha e i % ha e that the ill
that their hild ill i herit the do i a t
ha e a hild ho i herits oth opies of the
ge e utaio a d the orki g opy of the
do i a t ge e utaio fro his/her
ge e fro the pare ts a d he/she ill e
pare ts. Depe di g o the o diio , the
afe ted or predisposed to de elopi g the
hild a e ore se erel afe ted tha
o diio aused the ge e utaio .
their pare ts, or a ot e e sur i e, a d/
If both pare ts have the autoso al do i a t or ha e a ou ger age of o set for o diio s
ge e utaio that de elop later i life.
Both pare ts ould ha e the ge ei ake-up of
the perso i Figure 8. A. WHAT GENETIC CONDITIONS ARE CAUSED BY
AN AUTOSOMAL DOMINANT GENE MUTATION?
This ea s that i e er preg a there is: A u er of o diio s follo this pater
of i herita e i fa ilies. While so e are
ha e i % ha e that the ill o ious at irth, i other ases the s pto s
ha e a hild ho i herits oth opies of the do ot appear u il u h later i life.
orki g ge e fro his/her pare ts. I this Neuroi ro atosis t pe , a ho droplasia,
ase, the hild ill e u afe ted the Hu i gto disease, i herited predisposiio to
o diio reast, o aria a d o el a ers a d fa ilial
h per holesterolae ia all follo a pater of
autoso al do i a t i herita e.

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