Article
Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis.
American journal of medical genetics - 15 Jul 1994
Kaplan G, Kung M, McClure M, Cronister A
Abstract excerpt
With the cloning of the FMR-1 gene, direct mutation analysis is possible for fragile X syndrome. We have analyzed 495 patients using the StB12.3 probe/EcoRI/EagI system of Rousseau et al. [N Engl J Med 325:1673-1681, 1991] and 167 of these also with PCR analysis according to Brown et al. [JAMA 27...
Topics
- Blotting, Southern
- DNA Mutational Analysis
- DNA Probes
- Female
- Fragile X Syndrome
- Genetic Carrier Screening
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Repetitive Sequences, Nucleic Acid