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 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Forensic Science International: Genetics. Supplement Series
Vol/bind	4
Udgave nummer	1
Sider (fra-til)	e218-e219
Antal sider	2
ISSN	1875-1768
Status	Udgivet - 31 okt. 2013
Begivenhed	25’th congress of the International Society of Forensic Genetics - Melbourne, Australien Varighed: 2 sep. 2013 → 7 sep. 2013

Konference

Konference	25’th congress of the International Society of Forensic Genetics
Land/Område	Australien
By	Melbourne
Periode	02/09/2013 → 07/09/2013

Citationsformater

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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",

year = "2013",

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language = "English",

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journal = "Forensic Science International: Genetics. Supplement Series",

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TY - GEN

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

Konference

Fingeraftryk

Citationsformater