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Interestingly, mutations resulting from the loss of a single basepair within the DPP repeat changed its normally hydrophilic amino acids (SSD) to predominately hydrophobic amino acids (I, V, and A, for example) causing many cases of human dentinogenesis imperfecta and dentin dysplasia [ 8, 11, 12].
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SSRs generally included 2 to 6 nucleotide repeat types and the number of repeats changed significantly among geneotypes.
In all cases, the number of repeats changed by only a single unit, with +1 unit insertions being more common then −1 unit deletions.
K1 S3 Affirm repeat changes T Changes what?
Somatic TNR expansion is measured by two different methods, namely mean repeat change and instability index.
Differentiation is based on repeat changes due to point mutations, insertions, deletions and duplications [ 3].
A similar proportion between single and multiple repeat changes was detected.
Both VNTR 2 and 33 were highly variable among the eight isolates and demonstrated multiple repeat changes.
Furthermore, multiple repeat changes predominated among this second group of alleles, which correspond mainly to the locus O157-10.
The mechanism of instability has been assumed to be cumulative accumulation of short repeat changes with age, typically one-repeat additions or subtractions.
Across these studies, mutations were more frequently observed in loci with long alleles (more repeat units) and most were single repeat changes with gains more frequent than losses.
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