PROTEIN TRUNCATION TEST (PTT) protocol (archive)
The protein truncation test (PTT) is a mutation detection method that specifically detects mutations, which lead to the termination of mRNA translation and subsequently protein truncation. E.g.
NONSENSE MUTATION: Single nucleotide substitution, which produces a stop codon (TGA, TAA or TAG), and mRNA translation stops at the point of mutation.
FRAMESHIFT MUTATION: One or more nucleotides are either inserted or deleted. If the number of bases is not divisible by 3, a change in the reading frame alters the remainder of the translation of the mRNA, and frequently a stop codon is introduced prematurely.
SPLICE SITE MUTATION: One or more nucleotides are inserted or deleted, leading to the presence of a stop codon at a splice site
PTT is very successful for mutation detection in genes where the frequency of missense mutations is low (From the Great Ormond Street Children's Hospital)
Last update 20-Jan-2005, Rating n/a of 0 votes.
