Article
Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence.
Clinical genetics - 1 Oct 1993
Yamauchi M, Nagata S, Seki N, Toyama Y, Harada N, Niikawa N, Masuno I, Kajii T, Hori T
Abstract excerpt
The fragile X syndrome is the most common familial form of mental retardation. The mutation causing the syndrome is dynamic mutation due to an unstable DNA (CCG)n repeat localized at Xq27.3. We have previously reported a PCR procedure to prepare a diagnostic probe, pPCRfx1, which can be used to d...
Topics
- Blotting, Southern
- Chorionic Villi Sampling
- DNA Probes
- Family
- Female
- Fragile X Syndrome
- Humans
- Intellectual Disability
- Mutation
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Repetitive Sequences, Nucleic Acid