Miklós Kásler - Zoltán Szentirmay (szerk.): Identifying the Árpád Dynasty Skeletons Interred in the Matthias Church. Applying data from historical, archaeological, anthropological, radiological, morphological, radiocarbon dating and genetic research (Budapest, 2021)

CHAPTER SEVEN – Genetic investigations

Data from the literature show that if the rate of mutation is below 0.1%, then for 1,000 father-son alleles transmitted there will be one mutation that is not corrected. Weber-Wong (1993) and Sajantila et al.

(1999) studied 29,640 father-son allele transfers and found 18 A-STR mutations. Several studies have investigated mutations of the 13 core STR markers. Usually, 1-5 mutations happen out of 1,000 allele transfers. A higher marker mutation rate causes a higher rate of allele lengthening or shortening; in other words, a change in the number of repeating units. The lowest mutation rate can be found in the following A-STR markers: CSF1PO, TH01, TPOX, D5S818 and D8S1197. The highest mutation rates are in D21S11, FGA, D7S818, D16S539 and D18S51 (Butler 2005, Table 6.3, Appendix I).

Possible artifacts in the study ofA-STR markers

During amplification of A-STR markers, several artifacts can be generated, which can interfere with the evaluation of the allele genotypes from a given DNA template. First, we have to recognize - and for this reason, we discuss in detail - the so-called triplepeak pattern, also known as the “stutter” phenomenon, as well as peaks beyond the normal allele lengths, which can cause the allele lengths to deviate from the actual length on the electropherogram. Other factors that influence STR classification include non-template addition, microvariant and “off-ladder” alleles, allele skipping (dropout) and “null (silent)” alleles (Butler 2012).

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