First mutation rate analysis Of 24 autosomal STRs in Argentina

Abstract

We investigate the mutation rates of autosomal STRs in paternity tests including trios or duos, in our laboratory, along a period of ten years. We analyzed 5986 parent-child meiosis including 24 autosomal STRs, corresponded into the expanded CODIS core of 20 STRs plus loci Penta D, Penta E, SE33 and D6S1043. We detected mutations in 21/24 loci in 132 meiotic segregations events: 94 were paternal mutations, 19 maternal and 19 undetermined. The proportion of paternal vs maternal mutations was 4.9:1. Simple STRs accounted 61/132 of overall mutations, 58/132 to compound and 13/132 to complex STRs. Highest mutation rates were observed at loci CSF1PO, D12S391, D16S539, D18S51, D21S11, D3S1358, D8S1179, FGA, D13S317 and SE33 accumulating 75% of the total observed mutations. Lowest mutation rate was observed in THO-1 and TPOX (average mutation rate 1.7E-04). This work is the first attempt to generate a local database of autosomal STRs mutations for the population of Argentina to be used in forensic genetic analysis.