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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
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