Article
Direct DNA analysis of fragile X syndrome in Spanish pedigrees.
American journal of medical genetics - 1 Jan 2000
Tejada I, Mornet E, Biancalana V, Oberlé I, Boué J, Mandel J L, Boué A
Abstract excerpt
Eleven complete Spanish pedigrees with fragile X syndrome were analysed by Southern blotting with the DNA probe StB12.3 previously isolated and described by Oberlé et al. [1991]. This probe allowed the direct detection of affected males and carrier females and was able to distinguish between norm...
Topics
- Cytogenetics
- DNA
- DNA Mutational Analysis
- DNA Probes
- Female
- Fragile X Syndrome
- Humans
- Intelligence
- Male
- Methylation
- Mosaicism
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length