Article
Polymerase chain reaction analysis of fragile X mutations.
Human genetics - 1 Jan 2000
Erster S H, Brown W T, Goonewardena P, Dobkin C S, Jenkins E C, Pergolizzi R G
Abstract excerpt
The mutation that underlies the fragile X syndrome is presumed to be a large expansion in the number of CGG repeats within the gene FMR-1. The unusually GC-rich composition of the expanded region has impeded attempts to amplify it by the polymerase chain reaction (PCR). We have developed a PCR pr...
Topics
- Base Sequence
- Blotting, Southern
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- Oligonucleotide Probes
- Pedigree
- Polymerase Chain Reaction
- RNA-Binding Proteins
- Repetitive Sequences, Nucleic Acid
- X Chromosome