Article
Methylation and mutation patterns in the fragile X syndrome.
American journal of medical genetics - 1 Jan 2000
Malmgren H, Steén-Bondeson M L, Gustavson K H, Seémanova E, Holmgren G, Oberlé I, Mandel J L, Pettersson U, Dahl N
Abstract excerpt
Chromosomes carrying the mutation causing the fragile X [fra(X)] syndrome have been shown to have an unstable DNA sequence close to or within the fragile site. The length variation is located within a DNA fragment containing a CGG trinucleotide repeat which is unstable in both mitosis and meiosis. We have used the probe StB12.3 from the region to analyze the mutations and the methylation patterns in 21 families...
Topics
- DNA Mutational Analysis
- DNA Probes
- Diseases in Twins
- Female
- Fragile X Syndrome
- Heterozygote
- Humans
- Male
- Methylation
- Pedigree
- Phenotype
- Twins, Monozygotic