Measuring The Mutation Rate

Table 6.3 (facing) Observed mutation rates for the 13 core STR loci and other STR markers present in commercial kits. A total of 38 different paternity testing laboratories provided this STR mutation data, which is adapted from the American Association of Blood Banks (AABB) 2002 Annual Report issued in November 2003 that includes a compilation of multiple years (see http:// the_AABB/Stds_and_ Accred/ptannrpt02.pdf, p. 15). The reported mutations are divided into maternal or paternal sources or from either when the source of the mutation observed in a child could not be determined.

Since the average mutation rate is below 0.1%, approximately 1000 parent-offspring allele transfers would have to be observed before one mutation would be seen in some STR markers (Weber and Wong 1993). Brinkman and co-workers (1998) examined 10 844 parent-child allele transfers at nine STR loci and observed 23 mutations. No mutations were observed at three of the loci (TH01, F13B, CD4). Sajantila et al. (1999) studied 29 640 parent-child allele transfers at five STRs and four minisatellites and observed only 18 mutational events (11 in three STR loci: D3S1359, VWA, and TH01). Two of the STRs, TPOX and FES/FPS, had no detectable mutations.

The mutation rates for the 13 core STR loci have been gathered from a number of studies in the literature and are summarized in Table 6.3. Most of these mutation rates are on the order of 1-5 mutations per 1000 allele transfers or generational events. The STR loci with the lowest observed mutation rates are CSF1PO, TH01, TPOX, D5S818, and D8S1179. Not surprisingly, the STR loci with the highest mutation rates - D21S11, FGA, D7S820, D16S539, and D18S51 - are among the most polymorphic and possess the highest number of observed alleles (Appendix I).

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