Short tandem repeat (STR) loci in human genome are widely used in human identity testing and forensic casework, and most commercial kits available are based on multiplex amplification of common 10-16 STR loci with each analysis range specifically established in some populations. Therefore, this system may miss unusually small or large repeats beyond predefined analysis range. Here, we report unusually large repeats of 25-, 26- and novel 30-repeat in PentaE locus, suggesting that it may not be so rare in a certain population and necessitating extensive validation process of multiplex system prior to introduction into the population concerned.

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http://dx.doi.org/10.1016/j.fsigen.2012.06.004DOI Listing

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