Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 169-172, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-247714
ABSTRACT
<p><b>OBJECTIVE</b>To develop and validate a method for mutation screening and prenatal diagnosis of TSC1/TSC2 mutations among patients with tuberous sclerosis complex (TSC) by Ion Torrent semiconductor sequencing.</p><p><b>METHODS</b>Potential mutations of SC1/TSC2 gene was detected in 2 TSC families and 1 sporadic TSC patient using an Ion Torrent PGM sequencer. Candidate variants were validated by Sanger sequencing. The corresponding site of TSC2 in the fetus of family 2 was also detected with Sanger sequencing.</p><p><b>RESULTS</b>Ion Torrent semiconductor sequencing has identified a probably pathogenic TSC2 mutation (c.311-312insGCTG) in the patient from family 1, and a probably pathogenic TSC2 mutation (c.1790A>G) in the patient of family 2.</p><p><b>CONCLUSION</b>Targeted Ion Torrent PGM sequencing is an accurate and efficient method to detect TSC1/TSC2 mutations in TSC.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Diagnóstico Prenatal
/
Esclerosis Tuberosa
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Embriología
/
Proteínas Supresoras de Tumor
/
Genética
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS