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100% de 100% de manifestamanifestaççãoão
QUEM POSSUI O ALELO QUEM POSSUI O ALELO 
APRESENTA O FENAPRESENTA O FENÓÓTIPOTIPO
PenetrânciaPenetrância CompletaCompleta
PENETRÂNCIAPENETRÂNCIA
CAPACIDADE DO ALELO CAPACIDADE DO ALELO 
DOMINANTE MANIFESTAR DOMINANTE MANIFESTAR 
FENFENÓÓTIPOTIPO
Como? Um Como? Um aleloalelo dominantedominante nãonão éé aqueleaquele queque……
EL1
Slide 1
EL1 Elgion Loretto, 6/20/2008
manifestamanifestaççãoão MENOR MENOR queque 100%100%
NEM TODOS QUE POSSUEM O ALELO NEM TODOS QUE POSSUEM O ALELO 
APRESENTARÃO O FENAPRESENTARÃO O FENÓÓTIPOTIPO
PenetrânciaPenetrância INcompletaINcompleta
PENETRÂNCIAPENETRÂNCIA
CAPACIDADE DO ALELO CAPACIDADE DO ALELO 
DOMINANTE MANIFESTAR DOMINANTE MANIFESTAR 
FENFENÓÓTIPOTIPO
EL2
Slide 2
EL2 Elgion Loretto, 6/20/2008
http://www.cardiomyopathy.org/index.php?id=50
ArrhythmogenicArrhythmogenic rightright ventricular ventricular dysplasiadysplasia (ARVD).(ARVD).
H A D
http://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htmhttp://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htm
FitzPatrick Lab
Bilateral Renal Agenesis
Bilateral renal agenesis (BRA) or complete absence of
the kidneys is a common lethal malformation occurring in 
1 in 5000 births. 
http://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htmhttp://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htm
FitzPatrick Lab
Bilateral Renal Agenesis
Bilateral renal agenesis (BRA) or complete absence of the
kidneys is a common lethal malformation occurring in 1 in 
5000 births. It is twice as common in males as females.
http://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htmhttp://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htm
FitzPatrick Lab
Bilateral Renal Agenesis
Bilateral renal agenesis (BRA) or complete absence of the
kidneys is a common lethal malformation occurring in 1 in 
5000 births. It is twice as common in males as females.
BRA appears to have a predominantly genetic aetiology
and
http://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htmhttp://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htm
FitzPatrick Lab
Bilateral Renal Agenesis
Bilateral renal agenesis (BRA) or complete absence of the
kidneys is a common lethal malformation occurring in 1 in 
5000 births. It is twice as common in males as females.
BRA appears to have a predominantly genetic aetiology and
many cases represent the most severe manifestation of
an autosomal dominant condition with incomplete
penetrance and variable expressivity.
http://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htmhttp://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htm
FitzPatrick Lab
Bilateral Renal Agenesis
Bilateral renal agenesis (BRA) or complete absence of the
kidneys is a common lethal malformation occurring in 1 in 
5000 births. It is twice as common in males as females.
BRA appears to have a predominantly genetic aetiology and
many cases represent the most severe manifestation of an
autosomal dominant condition with incomplete penetrance
and variable expressivity.We are assembling a panel of
DNA samples from 50 Scottish infants who died as a 
result of BRA.
http://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htmhttp://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htm
FitzPatrick Lab
Bilateral Renal Agenesis
Bilateral renal agenesis (BRA) or complete absence of the
kidneys is a common lethal malformation occurring in 1 in 
5000 births. It is twice as common in males as females.
BRA appears to have a predominantly genetic aetiology and
many cases represent the most severe manifestation of an
autosomal dominant condition with incomplete penetrance
and variable expressivity. We are assembling a panel of
DNA samples from 50 Scottish infants who died as a 
result of BRA. These samples will be used to screen for 
mutations in candidate genes that will be chosen using
strict criteria.
http://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htmhttp://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htm
FitzPatrick Lab
Bilateral Renal Agenesis
Bilateral renal agenesis (BRA) or complete absence of the
kidneys is a common lethal malformation occurring in 1 in 
5000 births. It is twice as common in males as females.
BRA appears to have a predominantly genetic aetiology and
many cases represent the most severe manifestation of an
autosomal dominant condition with incomplete penetrance
and variable expressivity. We are assembling a panel of
DNA samples from 50 Scottish infants who died as a 
result of BRA. These samples will be used to screen for 
mutations in candidate genes that will be chosen using
strict criteria. Identification of the underlying genetic
defects in these families would considerably help
genetic counselling.
SEQÜÊNCIA DE POTTER
Oligohidrâmnio
(etiologia variada)
	PENETRÂNCIA
	PENETRÂNCIA