Characterization of mutations and sequence variations in complex STR loci by second generation sequencing

Sigrun Dalsgaard; Eszter Rockenbauer; Chiara Gelardi; Claus Børsting; Sarah Louise Fordyce; Niels Morling

Characterization of mutations and sequence variations in complex STR loci by second generation sequencing

Sigrun Dalsgaard, Eszter Rockenbauer, Chiara Gelardi, Claus Børsting, Sarah Louise Fordyce, Niels Morling

18 Citations (Scopus)

Abstract

We used second generation sequencing (SGS) to examine sequence variation and mutational patterns in complex STR loci in Danish paternity cases. Four STR loci, D2S1338, D3S1358, D12S391 and D21S11, were sequenced in 45 samples from 15 confirmed trios with genetic inconsistencies between one of the parents and the child in either the D2S1338 or the D3S1358 loci. In 12 of the 15 cases, SGS revealed the allele that had mutated from the parent. In total, 61 different alleles were found in the 30 unrelated individuals. The highest variation was observed in the D12S391 locus and the lowest one in the D3S1358 locus. The four STR loci are good candidate loci for future SGS kits for forensic genetic investigations.

Original language	English
Journal	Forensic Science International: Genetics. Supplement Series
Volume	4
Issue number	1
Pages (from-to)	e218-e219
Number of pages	2
ISSN	1875-1768
Publication status	Published - 31 Oct 2013
Event	25’th congress of the International Society of Forensic Genetics - Melbourne, Australia Duration: 2 Sept 2013 → 7 Sept 2013

Conference

Conference	25’th congress of the International Society of Forensic Genetics
Country/Territory	Australia
City	Melbourne
Period	02/09/2013 → 07/09/2013

Cite this

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title = "Characterization of mutations and sequence variations in complex STR loci by second generation sequencing",

abstract = "We used second generation sequencing (SGS) to examine sequence variation and mutational patterns in complex STR loci in Danish paternity cases. Four STR loci, D2S1338, D3S1358, D12S391 and D21S11, were sequenced in 45 samples from 15 confirmed trios with genetic inconsistencies between one of the parents and the child in either the D2S1338 or the D3S1358 loci. In 12 of the 15 cases, SGS revealed the allele that had mutated from the parent. In total, 61 different alleles were found in the 30 unrelated individuals. The highest variation was observed in the D12S391 locus and the lowest one in the D3S1358 locus. The four STR loci are good candidate loci for future SGS kits for forensic genetic investigations.",

author = "Sigrun Dalsgaard and Eszter Rockenbauer and Chiara Gelardi and Claus B{\o}rsting and Fordyce, {Sarah Louise} and Niels Morling",

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T1 - Characterization of mutations and sequence variations in complex STR loci by second generation sequencing

AU - Dalsgaard, Sigrun

AU - Rockenbauer, Eszter

AU - Gelardi, Chiara

AU - Børsting, Claus

AU - Fordyce, Sarah Louise

AU - Morling, Niels

PY - 2013/10/31

Y1 - 2013/10/31

N2 - We used second generation sequencing (SGS) to examine sequence variation and mutational patterns in complex STR loci in Danish paternity cases. Four STR loci, D2S1338, D3S1358, D12S391 and D21S11, were sequenced in 45 samples from 15 confirmed trios with genetic inconsistencies between one of the parents and the child in either the D2S1338 or the D3S1358 loci. In 12 of the 15 cases, SGS revealed the allele that had mutated from the parent. In total, 61 different alleles were found in the 30 unrelated individuals. The highest variation was observed in the D12S391 locus and the lowest one in the D3S1358 locus. The four STR loci are good candidate loci for future SGS kits for forensic genetic investigations.

AB - We used second generation sequencing (SGS) to examine sequence variation and mutational patterns in complex STR loci in Danish paternity cases. Four STR loci, D2S1338, D3S1358, D12S391 and D21S11, were sequenced in 45 samples from 15 confirmed trios with genetic inconsistencies between one of the parents and the child in either the D2S1338 or the D3S1358 loci. In 12 of the 15 cases, SGS revealed the allele that had mutated from the parent. In total, 61 different alleles were found in the 30 unrelated individuals. The highest variation was observed in the D12S391 locus and the lowest one in the D3S1358 locus. The four STR loci are good candidate loci for future SGS kits for forensic genetic investigations.

M3 - Conference article

SN - 1875-1768

VL - 4

SP - e218-e219

JO - Forensic Science International: Genetics. Supplement Series

JF - Forensic Science International: Genetics. Supplement Series

IS - 1

T2 - 25’th congress of the International Society of Forensic Genetics

Y2 - 2 September 2013 through 7 September 2013

ER -

Characterization of mutations and sequence variations in complex STR loci by second generation sequencing

Abstract

Conference

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