A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 482-485, 2003.
Article
Dans Chinois
| WPRIM
| ID: wpr-329429
ABSTRACT
<p><b>OBJECTIVE</b>To diagnose a Chinese benign familial neonatal convulsions (BFNC) family at the level of gene and investigate its molecular pathogenesis.</p><p><b>METHODS</b>All family members were studied by clinical examinations and linkage analysis. Mutation analysis of KCNQ2 gene was made by means of polymerase chain reaction (PCR)-direct sequencing and PCR-single strand conformation polymorphism (SSCP) in the proband, 16 family members and 72 unrelated normal individuals.</p><p><b>RESULTS</b>Linkage analysis hinted the linkage of BFNC to KCNQ2, while the linkage to KCNQ3 was excluded. Mutation 1931delG of KCNQ2 gene was found in the proband by DNA-direct sequencing. The same SSCP variant as the proband's was showed in the rest affected members of this family but not in the unaffected members of this family and all of the 72 unrelated normal individuals.</p><p><b>CONCLUSION</b>1931delG of KCNQ2 gene can cause BFNC in China and is novel mutation. The combination of linkage analysis and gene analysis is useful for gene diagnosis.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Canaux potassiques
/
Chimie
/
Épilepsie bénigne néonatale
/
Canaux potassiques voltage-dépendants
/
Canal potassique KCNQ2
/
Canal potassique KCNQ3
/
Génétique
/
Liaison génétique
/
Mutation
Limites du sujet:
Femelle
/
Humains
/
Nouveau-né
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2003
Type:
Article
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