[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa].
OBJECTIVE
We have previously identified rhodopsin gene mutations in France in autosomal dominant (ADRP) retinitis pigmentosa in France, using a combination of SSCP (single-strand conformation polymorphism) and direct sequence analysis. The aim of this study was to perform a more rapid tool to identify a mutation in a ADRP family, when this mutation has been identified for one affected member of this family.


METHODS
We looked for a restriction site, created or abolished by a mutation in the rhodopsin gene. We performed in vitro DNA amplification using PCR (polymerase chain reaction), enzymatic digestion, and migration on agarose gel.


RESULTS
Abnormal patterns of migration were observed for affected ADRP members.


CONCLUSIONS
This technique is useful and rapid (less than 5 hours) to recognize a previously identified mutation. However, previous precise identification of the mutation in one member of the family is needed.
Souied
E
E
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, Paris.
Rozet
J M
JM
Gerber
S
S
Munnich
A
A
Kaplan
J
J
D004262:DNA Restriction Enzymes; D004587:Electrophoresis, Agar Gel; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D012306:Risk
D012243:Rhodopsin; D004262:DNA Restriction Enzymes
Mise en évidence rapide de mutations déjà identifiées chez les apparentés à risque de patients atteints de rétinopathie pigmentaire dominante autosomique.