MUTATION RATE ANALYSIS OF 24 AUTOSOMAL STRS MEASURED ALONG A 10 YEARS PERIOD IN ARGENTINA

SALA ANDREA; CAPUTO, MARIELA; CORACH DANIEL

Praga

Congreso; 28 th Congress of the International Society for Forensic Genetics-ISFG; 2019

ISFG

We investigate the mutation rates ofautosomal STRs in paternity tests including trios or duos, in our laboratory,along a period of ten years. Were analyzed 5986 parent-child meiosis including 24autosomal STRs. These STRs corresponds to the expanded CODIS core of 20 STRsplus loci Penta D, Penta E, SE33 and D6S1043. We detected mutations in 21/24 lociin 132 meiotic segregations events: 93 were paternal mutations, 19 maternal and20 undetermined. The proportion of paternal vs maternal mutations was 5.7:1 andthe age of parents range from 20 to 55 years old. Simple STRs accounted for 61/132of overall mutations, 58/132 to compound and 13/132 to complex STRs. Thehighest mutation rates were observed at CSF1PO, D12S391, D16S539, D18S51,D21S11, D3S1358, D8S1179 and FGA accumulating 62% of the total (70% of thempaternally transmitted). Mutation rate ranged from 0 to 0.0018. Lowest mutationrate was observed in THO-1 and TPOX (average mutation rate 1.6E-04 and 3.3E-04,respectively). All mutations can be addressed to gain/ loss of one repeat unit,single step mutations. In addition, there were observed three mutationscompatible with null alleles and three tri-allelic patterns. No mutations weredetected at loci D2S441, D22S1045 and D10S1248. This work is the first attempt to generate a local database ofautosomal STRs mutation for the population of Argentina to be used in forensicgenetic analysis.