Mutation rates for 20 STR loci in a population from São Paulo state, Southeast, Brazil.

Martinez J; Braganholi DF; Ambrósio IB; Polverari FS; Cicarelli RMB

doi:10.1080/03014460.2017.1371222

Mutation rates for 20 STR loci in a population from São Paulo state, Southeast, Brazil.

Affiliations

1. Laboratory of Paternity Investigation , São Paulo State University (UNESP), School of Pharmaceutical Sciences , São Paulo , Brazil.
Authors
Martinez J¹
Braganholi DF¹
Ambrósio IB¹
Polverari FS¹
Cicarelli RMB¹
(5 authors)

ORCIDs linked to this article

Martinez J | 0000-0003-3496-1961

Annals of Human Biology, 11 Sep 2017, 44(7):659-662
https://doi.org/10.1080/03014460.2017.1371222 PMID: 28831823

Abstract

Short tandem repeats (STRs) are genetic markers largely employed in forensic analysis and paternity investigation cases. When an inconsistency between the parent and child is considered as a possible mutation, the mutation rate should be incorporated into paternity index calculations to give a robust result and to reduce the chance of misinterpretation. The aim of this study was to estimate the mutation rates of 20 autosomal STRs loci used for paternity tests. In these loci we analysed 29,831 parent-child allelic transfers from 929 duo or trio paternity tests carried out during 2012?2016 from São Paulo State, Brazil. We identified 35 mutations in 16 loci, and they were more frequent in the paternal germline compared to the maternal germline. The loci with the highest rate were vWA and FGA and the ones with the lowest rate were PENTA E, PENTA D, D21S11, D7S820 and D6S1043. We did not identified any mutation in D2S1338, TH01, TPOX and D16S539 loci. All mutations consisted of losses or gains of one repeat unit. Mutation rates found in the São Paulo population have peculiarities, which justifies the use of regional databases in laboratories.

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References

Articles referenced by this article (20)

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Cited by: 4 articles | PMID: 30132945

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Mutation rates for 20 STR loci in a population from São Paulo state, Southeast, Brazil.

Affiliations

Authors

ORCIDs linked to this article

Abstract

Full text links

References

Title not supplied

Mutation rates at 14 STR loci in the population from Pernambuco, Northeast Brazil.

Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat.

15 STR loci frequencies with mutation rates in the population from Rio Grande do Sul, Southern Brazil.

Beyond traditional paternity and identification cases. Selecting the most probable pedigree.

A brief review of short tandem repeat mutation.

Male-specific contributions to the Brazilian population of Espirito Santo.

Genome-wide patterns and properties of de novo mutations in humans.

Developing criteria and data to determine best options for expanding the core CODIS loci.

Title not supplied

Citations & impact

Impact metrics

Citations of article over time

Smart citations by scite.ai
Explore citation contexts and check if this article has been supported or disputed.
https://scite.ai/reports/10.1080/03014460.2017.1371222

Article citations

Developmental and validation of a novel small and high-efficient panel of microhaplotypes for forensic genetics by the next generation sequencing.

Analysis of data and common mutations encountered during routine parentage testing in Zimbabwe.

Paternity testing using massively parallel sequencing and the PowerSeq™ AUTO/Y system for short tandem repeat sequencing.

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Search life-sciences literature (45,100,050 articles, preprints and more)

Mutation rates for 20 STR loci in a population from São Paulo state, Southeast, Brazil.

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Citations & impact

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Funding

CAPES

CNPq

PADC/FCF - UNESP (1)﻿

PADC/FCF-UNESP (1)﻿

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PADC/FCF - UNESP (1)

PADC/FCF-UNESP (1)