Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 558-565, 2001.
Artículo
en Coreano
| WPRIM
| ID: wpr-123576
ABSTRACT
BACKGROUND:
The fragile X syndrome is the most common cause of inherited mental retardation, is almost always caused by abnormal CGG trinucleotide amplication within the FMR1(fragile X mental retardation) gene located in Xq27.3METHODS:
DNA samples were obtained from the amniotic fluids of known carrier mother and 35 mothers without risk factors of the fragile X syndrome. Polymerase chain reaction(PCR) and Southern blot analysis were performed to evaluate the number of CGG repeats in the FMR1 gene.RESULTS:
The DNA samples from the carrier mother gave a large fragment over 300 repeats by PCR. All 35 control samples showed fragments sized under 35 repeats.CONCLUSIONS:
Prenatal diagnosis of the fragile X syndrome could be done with mid-trimester amniotic fluid using PCR and Southern blot method.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
ADN
/
Southern Blotting
/
Reacción en Cadena de la Polimerasa
/
Factores de Riesgo
/
Síndrome del Cromosoma X Frágil
/
Líquido Amniótico
/
Discapacidad Intelectual
/
Madres
Tipo de estudio:
Estudio diagnóstico
/
Estudio de etiología
/
Factores de riesgo
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Año:
2001
Tipo del documento:
Artículo
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