Mutation rates in 21 autosomal short tandem repeat loci in a population from Goiás, Brazil

The appearance of new mutations in polymorphic markers plays a central role in a range of genetic applications, including dating phylogenetic events, informing disease studies, and evaluating forensic evidence. The present study estimated the mutation rates of 21 autosomal STR loci in a population f...

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Veröffentlicht in:Electrophoresis 2017-11, Vol.38 (21), p.2791-2794
Hauptverfasser: Vieira, Thaís Cidália, Duarte Gigonzac, Marc Alexandre, Goulart Rodovalho, Ricardo, Morais Cavalcanti, Luana, Bernardes Minasi, Lysa, Melo Rodrigues, Flávia, da Cruz, Aparecido Divino
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container_end_page 2794
container_issue 21
container_start_page 2791
container_title Electrophoresis
container_volume 38
creator Vieira, Thaís Cidália
Duarte Gigonzac, Marc Alexandre
Goulart Rodovalho, Ricardo
Morais Cavalcanti, Luana
Bernardes Minasi, Lysa
Melo Rodrigues, Flávia
da Cruz, Aparecido Divino
description The appearance of new mutations in polymorphic markers plays a central role in a range of genetic applications, including dating phylogenetic events, informing disease studies, and evaluating forensic evidence. The present study estimated the mutation rates of 21 autosomal STR loci in a population from Central Brazil. We studied 15 046 paternity cases from Goiás, Brazil from August 2012 to February 2015. We identified 262 mutations in the 21 loci. The loci that presented more mutations were FGA and D18S51, with a total of 46 and 28 mutations, respectively. The results showed mutational rates ranging from 1.7 × 10−5 to 7.6 × 10−4 mutations per site/region and the overall mutational rate was 2.1 × 10−4; these values were within the expected values for the STR markers. The most common type of mutation was one‐step mutation, which totaled 96.2%. We found a higher rate of mutations of paternal origin (67.6%) than of mutations of maternal origin. The occurrence of mutations in STRs has important consequences for human identification, including the definition of criteria for exclusion in paternity testing and interpretation of genetic profiles in criminal cases.
doi_str_mv 10.1002/elps.201700192
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source Wiley Online Library - AutoHoldings Journals; MEDLINE
subjects Brazil
Crime
DNA - analysis
DNA Fingerprinting
Ethnic Groups - genetics
Forensic Anthropology - methods
Forensic engineering
Genetic Loci
Genetics, Population
Germline mutation
Humans
Loci
Markers
Microsatellite Repeats
Mutation
Mutation Rate
Paternity
Paternity testing
Short tandem repeats
Tandem Repeat Sequences
title Mutation rates in 21 autosomal short tandem repeat loci in a population from Goiás, Brazil
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