Article
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
American journal of human genetics - 1 Dec 1993
Snow K, Doud L K, Hagerman R, Pergolizzi R G, Erster S H, Thibodeau S N
Abstract excerpt
In this study, we have characterized a CGG repeat at the FMR-1 locus in more than 100 families (more than 500 individuals) presenting for fragile X testing and in 247 individuals from the general population. Both Southern blot and PCR-based assays were evaluated for their ability to detect premut...
Topics
- Blotting, Southern
- Cytosine
- DNA
- Evaluation Studies as Topic
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Genetic Testing
- Genotype
- Guanine
- Humans
- Male
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Phenotype
- Polymerase Chain Reaction