triplet repeat การใช้

• The mechanism behind the expansion of the triplet repeats is not well understood.
• Length changes in other triplet repeats are linked to more than 40 neurological diseases in humans.
• The particular genetic mutation ( expansion of an intronic GAA triplet repeat in the FXN gene ) leads to reduced expression of the mitochondrial protein frataxin.
• The ESS nulceotide sequence exists within intron 10 and is thought to be dependent on the CUG triplet repeat in order to silence the splicing of exon 11.
• This gene contains a trinucleotide ( GCT ) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein.
• The second, related DNA-triplet repeat disease, fragile X-E syndrome, was also identified on the X chromosome, but was found to be the result of an expanded CCG repeat.
• Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome ( specifically, expansion of an intronic GAA triplet repeat in the FXN gene, which encodes the protein frataxin . ).
• However, the mutation responsible for the most common allele is a deletion of one codon within a very short triplet repeat ( GAC ), in which the 469th amino acid, an aspartic acid, is deleted ( OMIM 2008 ).
• "' Trinucleotide repeat disorders "'( also known as "'trinucleotide repeat expansion disorders "', "'triplet repeat expansion disorders "'or "'codon reiteration disorders "') are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where genomic sequences.