aula aberracoes cromossomicas
TRANSCRIPT
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Anemia falciforme
Doença de Gaucher
Fibrose cística
Distrofia de Duchenne
Síndrome de Marfan
A1 = gene normal
A 2 = gene mutado
A1A1 A2A2A1A2
Normal Afetado
Normal Afetado(portador)
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CARACTERÍSTICAS DETERMINADAS PELA INTERAÇÃO
DE VÁRIOS GENES
Cor de olho
Altura
Hipertensão arterial
Doença de Alzheimer
Esquizofrenia
Diabetes mellitus
A + B + C + ... + K
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TRAÇOS MULTIFATORIAIS
A1A2
B1B2
C1C2
D1D2
A3A4
B3B4
C3C4
D3D4
A2A4
B1B4
C1C3
D2D4
A1A4
B1B3
C2C4
D2D4
A2A4
B2B3
C1C4
D2D4
A2A4
B2B3
C1C4
D2D4
MEIO AMBIENTE!!!
+
S (genes)
FENÓTIPO =
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1956
2000’s
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46,XY
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46,XX
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ABERRAÇÕES CROMOSSÔMICAS
0.7% nascimentos (1/160);
2% gravidezes (>35 anos);
50% abortos espontâneos 1o trimestre;
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Freqüência de doenças genéticas
Tipo 1.000 nascimentos
Monogênicas
4,5 – 14,0
Multifatoriais
26,0 – 32,0
Cromossômicas
4,0 – 6,8
Total 34,5 – 52,8
Cromossômicas ~12,5%
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ABERRAÇÕES CROMOSSÔMICAS
NUMÉRICAS
0.7% (60%) nascimentos
2% (85%) gravidezes (>35 anos);
50% (96%) abortos espontâneos 1o trimestre;
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microcefalia
anomalias bulbo olho
hipertelorismo
labio leporino
palato fendido
polidactilia
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Síndrome de Patau (trissomia 13): 47,XY,+13
1/10.000;
Letal < 6 meses;
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NÃO DISJUNÇÃO
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Trissomia do cromossomo 18
47,XY,+18
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Síndrome de Edwards
(trissomia 18): 47,XY,+18
1/8.000;
Letal < 1 mês;
95% aborto espontâneo.
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hipotonia
face típica
ponte nasal achatada
pescoço curto/pele nuca
prega única na mão
retardo mental
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Síndrome de Down
• mais comum;
• maior causa genética de retardo mental;
• 1/800 nascimentos;
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Origem da não-disjunção do cromossomo
21
Materna 89% MI 75% MII 25%
Paterna 9% MI 46% MII 54%
Mitótica 2%
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Síndrome de Down e Idade Materna
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A formação de gametas no homem e na mulher
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Síndrome de Down
• mais comum;
• maior causa genética de retardo mental;
• 1/800 nascimentos;
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Formação de embrião com mosaiscismo
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GRAVIDADE = ?=
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ALTERAÇÕES CROMOSSÔMICAS ESTRUTURAIS
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Formação de rearranjos cromossômicos
Translocação recíproca
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ABERRAÇÃO CROMOSSÔMICA
ESTRUTURAL
TRANSLOCAÇÃO
46,XX,t(3q11p)
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TRANSLOCAÇÃO Robertsoniana
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balanceada
não
balanceada
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Síndrome de Down
Trissomia livre 21: 95% (1%)
Translocação: 4% (15%)
Mosaicismo: 1% (???)
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ABERRAÇÕES CROMOSSÔMICAS
ESTRUTURAIS
BALANCEADAS
• Sem efeito fenotípico;
• Gametas = ?
• Mais comum em : retardo mental;
>= 2 abortos expont.;
homens estéreis.
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ABERRAÇÃO CROMOSSÔMICA
ESTRUTURAL
INVERSÃO
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INVERSÃO PERICENTRICA DO 18
16 17 18
mãe
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P1 q1 q2
1 1 2 1 2 3
P1 q1 q2
1 2 1 1 1 2 3
P1
normal
mãe
P1 q1
1 1 2 1
P1
P1 q1 q2
1 1 2 1 2 33 2 1
q2
deleção
duplicação
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ABERRAÇÃO CROMOSSÔMICA
ESTRUTURAL
DELEÇÃO
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Deleção cromossômica
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Deleção do braço curto do cromossomo 5
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ABERRAÇÕES CROMOSSÔMICAS
ESTRUTURAIS
NÃO - BALANCEADAS
• Dismorfismos;
• Atraso de desenvolvimento físico/mental;
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INDICAÇÕES CLÍNICAS
ANÁLISE CROMOSSÔMICA
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INDICAÇÕES CLÍNICAS
ANÁLISE CROMOSSÔMICA
CONSANGUINIDADE!
a1a5
1 2 3
1 2
I
II
54
III ?
?
?
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INDICAÇÕES CLÍNICAS
ANÁLISE CROMOSSÔMICA
Problemas início de crescimento & desenvolvimento:
atraso desenvolvimento;
face dismórfica
malformação múltiplas;
retardo mental;
baixa estatura;
genitália ambígua;
Nascimento morto/morte neo-natal;
Problemas de fertilidade:
3-6% abortos sucessivos & infertilidade;
História familiar:
anomalia em parente de 1o grau;
Down: trissomia vs. translocação.