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Korean Journal of Obstetrics & Gynecology 2001;44(3):558-565.
Published online March 1, 2001.
Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA.
Gwang Jun Kim, Suk Young Kim, Byung Cheul Hwang, Chan Young Park, Yu Duk Choi, Yu Jin Whang
1Department of Obstetrics and Gynecology, Gachon Medical School, Gil Medical Center, Incheon, Korea.
2Molecular genetic research center, Gachon Medical School, Gil Medical Center, Incheon, Korea.
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.
Key Words: Fragile X syndrome, Prenatal diagnosis

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