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. |
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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. |
Key Words:
Fragile X syndrome, Prenatal diagnosis |
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