File - L3 Bichat 2013-2014

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Fréquence des maladies récessives autosomiques
A2
A1
A
A1A1
A2A2
A2A1
A1A2A1
A2
A1
A2
A1A2 A1A2
A1A1 A2A2
A1A2A1A2
¼= 25%
homozygotes
A2
½= 50%
hétérozygotes
A1A2
si A2 = allèle délétère
maladie autosomique récessive :
fréquence de la maladie Q = q2
fréquence hétérozygotes Q = 2pq= 2(1-q)q
si q est petit /1 = 2q
fréquence génotypique
=
q
2
+ 2pq + p
2
p= fréquence allèle A1
q= fréquence allèle A2
p + q = 1
p = 1- q
¼= 25%
homozygotes
A1

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MUCOVISCIDOSE
Conseil génétique
Parents d ’un enfant atteint ont un risque 1/4 d ’avoir un enfant atteint
risque pour la fratrie d’un parent atteint?
Probabilité que II-3 soit hétérozygote = 1/2
Probabilité que II-4 soit hétérozygote = 1/20
Probabilité que III-3 soit atteint = 1/2 X 1/20 X 1/4
= 1/160
I
II
III ?
4
3
123
alors que couple population générale 1/2 000
Dépistage des hétérozygotes
DEPISTAGE NEONATAL de la Mucoviscidose
Dosage TIR-J3 Dosage TIR-J3 < seuil
STOP
Dosage TIR-J3 > seuil
DEPISTAGE
Etude du gène CFTR
M/M M/X X/X
Control TIR-J21 < seuil
Dosage TIR-J21
Dosage TIR-J21 > seuil
Test de la sueur
Anormal Normal
Prise en
Charge
maladie
Conseil
génétique
si M/X
BIOLOGIE
MOLECULAIRE
CRCM
Papier buvard dosage de la trypsine immunoréactive (TIR) (enzyme pancréatique)
Centre de Ressources
et de Compétences
pour la Mucovisidose
29 mutations
Sensibilité 98%