Mutational Analysis of FOXL2 Gene in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) Patients
Journal of the Korean Ophthalmological Society
;
: 1172-1179, 2003.
Artículo
en Coreano
| WPRIM
| ID: wpr-159427
ABSTRACT
PURPOSE:
The purpose of this paper is to identify the forkhead transcription factor gene (FOXL2) mutations in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).METHODS:
We have analyzed the mutations of FOXL2 gene in genomic DNAs extracted from 16 BPES patients and their families by PCR, PCR-SSCP, and sequencing.RESULTS:
No deletion in exon 1 to 3 of the FOXL2 gene was observed by PCR. The PCR products were subjected to SSCP analysis and 9 patients showed SSCP shifts. The PCR products showing SSCP shifts were subcloned into plasmid vectors and sequenced to confirm the FOXL2 mutation. In total, 7 mutations (1 nonsense mutation, 1 deletion, and 5 duplications) in exon 2 were identified.CONCLUSIONS:
The FOXL2 gene mutations were identified in the Korean BPES patients. Some of the mutations were previously reported and some were new mutations. This study will contribute to the molecular analysis and clinical counseling of BPES patients.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Plásmidos
/
Factores de Transcripción
/
ADN
/
Reacción en Cadena de la Polimerasa
/
Exones
/
Polimorfismo Conformacional Retorcido-Simple
/
Codón sin Sentido
/
Consejo
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Año:
2003
Tipo del documento:
Artículo
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