Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA.
- Author:
Gwang Jun KIM
1
;
Suk Young KIM
;
Byung Cheul HWANG
;
Chan Young PARK
;
Yu Duk CHOI
;
Yu Jin WHANG
Author Information
1. Department of Obstetrics and Gynecology, Gachon Medical School, Gil Medical Center, Incheon, Korea.
- Publication Type:Original Article
- Keywords:
Fragile X syndrome;
Prenatal diagnosis
- MeSH:
Amniotic Fluid*;
Blotting, Southern;
DNA*;
Female;
Fragile X Syndrome*;
Humans;
Intellectual Disability;
Mothers;
Polymerase Chain Reaction;
Prenatal Diagnosis*;
Risk Factors
- From:Korean Journal of Obstetrics and Gynecology
2001;44(3):558-565
- CountryRepublic of Korea
- Language:Korean
-
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.
