Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.
Indian J Pediatr
;
2009 Feb; 76(2): 147-9
Article
Dans Anglais
| IMSEAR
| ID: sea-79213
ABSTRACT
OBJECTIVE:
Mutation analysis in Indian children with achondroplasia.METHODS:
We studied 11 sporadic cases of achondroplasia. Mutation analysis was done by PCR/RFLP (Polymerase chain reaction/Restriction fragment length polymorphism) method.RESULTS:
Nine of the 11 cases had mutation G-->A at 1138 nucleotide position in transmembrane domain of fibroblast growth-factor receptor 3 (FGFR3) gene. Substitution G-->A is a common recurrent mutation reported worldwide. In two cases we could not detect any common mutation and also in entire region of transmembrane domain sequenced. There is possibility of mutation in the other regions of FGFR3 gene in these two cases.CONCLUSION:
Further study of these two cases is needed in order to define other genotypes resulting in achondroplasia. Postnatal diagnosis of achondroplasia depends on clinical and radiological features. Mutation detection is mainly useful for prenatal diagnosis.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Achondroplasie
/
Humains
/
Analyse de mutations d'ADN
/
Enfant
/
Mutation ponctuelle
/
Récepteur de type 3 des facteurs de croissance fibroblastique
/
Inde
/
Biologie moléculaire
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2009
Type:
Article
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