Korean J Obstet Gynecol.  2001 Mar;44(3):558-565.

Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA

• Kim GJ
• Kim SY
• Hwang BC
• Park CY
• Choi YD
• Whang YJ

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 Xq27.3
METHODS
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.

Keyword

Fragile X syndrome; Prenatal diagnosis

MeSH Terms

Amniotic Fluid*
Blotting, Southern
DNA*
Female
Fragile X Syndrome*
Humans
Intellectual Disability
Mothers
Polymerase Chain Reaction
Prenatal Diagnosis*
Risk Factors
DNA