Prenatal diagnosis of achondroplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 427-429, 2008.
Article
Dans Chinois
| WPRIM
| ID: wpr-308047
ABSTRACT
<p><b>OBJECTIVE</b>To diagnose achondroplasia prenatally by FGFR3 gene detection.</p><p><b>METHODS</b>Seventy-eight fetuses affected by short-limb dysplasias were recruited. Umbilical blood sampling was employed to obtain fetal blood for karyotyping and FGFR3 gene detection. Genomic DNA was extracted, and the exon 10 of the FGFR3 gene was amplified. PCR amplicons were analyzed by DNA sequencing and restriction fragment length polymorphism with Bfm I. The FGFR3 exon 10 from the parents of the positive fetuses was screened by the same method.</p><p><b>RESULTS</b>In 78 fetuses affected with short-limb dysplasias, 8 cases had G1138A heterozygotic mutation and normal karyotype, and were diagnosed as achondroplasia. The other 70 fetuses had normal nucleotide at nucleotide 1138 in exon 10 of FGFR3, therefore were excluded from achondroplasia. Only one father in parents of the 8 achondroplasia fetuses also had the G1138A mutation.</p><p><b>CONCLUSION</b>Achondroplasia could be diagnosed prenatally in the fetuses affected with short-limb dysplasias by using PCR-RFLP and DNA sequencing of the exon 10 of the FGFR3 gene.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Achondroplasie
/
Polymorphisme de restriction
/
Analyse de mutations d'ADN
/
Diagnostic
/
Récepteur de type 3 des facteurs de croissance fibroblastique
/
Génétique
/
Méthodes
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2008
Type:
Article
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