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 |
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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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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.</description><identifier>ISSN: 0173-0835</identifier><identifier>EISSN: 1522-2683</identifier><identifier>DOI: 10.1002/elps.201700192</identifier><identifier>PMID: 28792614</identifier><language>eng</language><publisher>Germany: Wiley Subscription Services, Inc</publisher><subject>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</subject><ispartof>Electrophoresis, 2017-11, Vol.38 (21), p.2791-2794</ispartof><rights>2017 WILEY‐VCH Verlag GmbH & Co. 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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.</description><subject>Brazil</subject><subject>Crime</subject><subject>DNA - analysis</subject><subject>DNA Fingerprinting</subject><subject>Ethnic Groups - genetics</subject><subject>Forensic Anthropology - methods</subject><subject>Forensic engineering</subject><subject>Genetic Loci</subject><subject>Genetics, Population</subject><subject>Germline mutation</subject><subject>Humans</subject><subject>Loci</subject><subject>Markers</subject><subject>Microsatellite Repeats</subject><subject>Mutation</subject><subject>Mutation Rate</subject><subject>Paternity</subject><subject>Paternity testing</subject><subject>Short tandem repeats</subject><subject>Tandem Repeat Sequences</subject><issn>0173-0835</issn><issn>1522-2683</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1KxDAUhYMoOo5uXUrAjQs73vw16VIH_2BEQV25KJlMipW0qUmL6Nv4LL6YGUZduHF14fKdw-FDaI_AhADQY-u6OKFAJAAp6BoaEUFpRnPF1tEovVkGiokttB3jMwDwgvNNtEWVLGhO-Ag9Xg-97mvf4qB7G3HdYkqwHnoffaMdjk8-9LjX7cI2ONjO6h47b-olqHHnu8Gt4lXwDb7w9edHPMKnQb_XbgdtVNpFu_t9x-jh_Ox-epnNbi6upiezzHAQkFFZKcpzk2tpqaqMYgWlRkjGhE7b1dxUSlhKCksEg0pJLgkHw-d8sZBQMTZGh6veLviXwca-bOporHO6tX6IZRIjRcFzwRN68Ad99kNo07pECSUZqORrjCYrygQfY7BV2YW60eGtJFAutZdL7eWv9hTY_64d5o1d_OI_nhPAV8Br7ezbP3Xl2ez2LqcFsC_jf4x2</recordid><startdate>201711</startdate><enddate>201711</enddate><creator>Vieira, Thaís Cidália</creator><creator>Duarte Gigonzac, Marc Alexandre</creator><creator>Goulart Rodovalho, Ricardo</creator><creator>Morais Cavalcanti, Luana</creator><creator>Bernardes Minasi, Lysa</creator><creator>Melo Rodrigues, Flávia</creator><creator>da Cruz, Aparecido Divino</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7U5</scope><scope>8FD</scope><scope>L7M</scope><scope>7X8</scope></search><sort><creationdate>201711</creationdate><title>Mutation rates in 21 autosomal short tandem repeat loci in a population from Goiás, Brazil</title><author>Vieira, Thaís Cidália ; 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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. 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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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