NCJ Number
246385
Journal
Forensic Science International: Genetics Volume: 7 Issue: 3 Dated: May 2013 Pages: 337-344
Date Published
May 2013
Length
8 pages
Annotation
This research looks at "hidden" mutations to access genetic inconsistencies.
Abstract
It is well known in forensic genetics that mutations on STR loci need not lead to genetic inconsistencies between the genotypes of parents and children (cf. [3,6,1] ). In this article researchers look at a generalization of this phenomenon of "hidden" mutations: they investigate the probability with which a mutation of d repeat units appears to be one of k less than d repeat units, in the sense that a mutation of k repeat units is sufficient to explain the observed genotypes. The case k = 0 then corresponds to a hidden mutation. The researchers give tables of these probabilities for many commonly used STR markers and show how they can be used to obtain actual mutation rates from apparent mutation rates per locus, mutational distance and gender. The researchers illustrate the difference between apparent and actual mutation rates by using mutation counts from the AABB's annual reports of 2003 and 2008. These computations suggest that all mutations, but especially those of distance greater than one, are more common than counts of apparent distances suggest.(Published Abstract)