Direct detection of novel expanded trinucleotide repeats in the human genome

摘要: Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that identify potentially pathological without prior knowledge chromosomal location. Human genomic DNA is used as template for two–step cycling process generates oligonucleotide multimers when expanded sequences are present at the level found in myotonic dystrophy and fragile–X patients. identified least one new locus exhibiting expansion. Analysis three families transmitting long CTG shows allele these corresponds on chromosome 18. RED constitutes powerful tool other diseases caused by this mechanism, particularly associated with anticipation.