Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 558-565, 2001.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
DNA
/
Southern Blotting
/
Reação em Cadeia da Polimerase
/
Fatores de Risco
/
Síndrome do Cromossomo X Frágil
/
Líquido Amniótico
/
Deficiência Intelectual
/
Mães
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Fatores de risco
Limite:
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Ano de publicação:
2001
Tipo de documento:
Artigo
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