Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 373-375, 2003.
Article
Dans Chinois
| WPRIM
| ID: wpr-329456
ABSTRACT
<p><b>OBJECTIVE</b>To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level.</p><p><b>METHODS</b>Genomic DNA from peripheral blood of all members in this family was used for amplification of the exon 10 of fibroblast growth factor receptor 3(FGFR3) gene by PCR; mutation was detected by DNA sequencing and identified by restriction endonuclease MaeIII.</p><p><b>RESULTS</b>A new mutation of A to T at nucleotide 1180 was found in patients but not in unaffected members.</p><p><b>CONCLUSION</b>Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Anatomopathologie
/
Pedigree
/
Achondroplasie
/
Protein-tyrosine kinases
/
ADN
/
Analyse de mutations d'ADN
/
Séquence nucléotidique
/
Chimie
/
Santé de la famille
/
Récepteur facteur croissance fibroblaste
Type d'étude:
Étude pronostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2003
Type:
Article
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