Article
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.
Cell - 17 Jun 1994
Kunst C B, Warren S T
Abstract excerpt
Fragile X syndrome results from the expansion of a CGG repeat that is normally interrupted by occasional AGG triplets. Linkage disequilibrium suggests that certain normal haplotypes may contribute unequally to the pool of fragile X chromosomes. Sequence analysis of normal alleles demonstrates hap...
Topics
- Alleles
- Base Sequence
- DNA
- DNA Replication
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Variation
- Haplotypes
- Humans
- Linkage Disequilibrium
- Male
- Molecular Sequence Data
- Nerve Tissue Proteins
- Pedigree
- Polymorphism, Restriction Fragment Length
- RNA-Binding Proteins
- Repetitive Sequences, Nucleic Acid