Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 558-565, 2001.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
DNA
/
Blotting, Southern
/
Polymerase Chain Reaction
/
Risk Factors
/
Fragile X Syndrome
/
Amniotic Fluid
/
Intellectual Disability
/
Mothers
Type of study:
Diagnostic study
/
Etiology study
/
Risk factors
Limits:
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Obstetrics and Gynecology
Year:
2001
Type:
Article
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