A novel mutation in CACNA1A associated with familial hemiplegic migraine / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
;
(12): 705-709, 2016.
Article
Dans Chinois
| WPRIM
| ID: wpr-498629
ABSTRACT
Objective To identify mutations of CACNA1A gene in a family with hemiplegic migraine.Methods Total genomic DNA was extracted from a family with 3 affected members and 1 000 healthy controls.The proband and his patient sister were subjected to exome sequencing.Ten family members including 3 patients were subjected to linkage analysis.The coding exons of the CACNA1A gene were amplified and sequenced in affected and normal individuals. Bioinformatics analysis were performed.Results A novel CACNA1A mutation was identified in the 3 patients.The nonsense mutation of A to G was detected at nucleotide 1168 ( c.1168A >G) which converted the Asn codon ( AAT) to Asp (GAT) in exon 8.Conclusion The mutation(N390D) detected in the present study is considered to result in the Chinese Hemiplegic migraine family.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
langue:
Chinois
Texte intégral:
Chinese Journal of Laboratory Medicine
Année:
2016
Type:
Article
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