Characterization of mutations and sequence variants in the D21S11 locus by next generation sequencing

TY - JOUR

T1 - Characterization of mutations and sequence variants in the D21S11 locus by next generation sequencing

AU - Rockenbauer, Eszter

AU - Hansen, Stine

AU - Mikkelsen, Martin

AU - Børsting, Claus

AU - Morling, Niels

N1 - Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

PY - 2014/1

Y1 - 2014/1

N2 - We sequenced the D21S11 locus in 77 individuals from Danish paternity cases using 454 FLX next generation sequencing (NGS) technology. All samples were also typed with the AmpFlSTR(®) Profiler Plus(®) or the AmpFlSTR(®) Identifiler(®) PCR Amplification kits as part of paternity investigations. In 18 of the confirmed trios, a genetic inconsistency was observed between one of the parents and the child at the D21S11 locus. NGS of the D21S11 locus revealed which allele had mutated from which parent to the child in 13 of these trios. All characterized mutations could be explained by single-step mutations in the longest sub-repeat of D21S11. A total of 53 of the 77 sequenced samples originated from unrelated individuals. Twenty different D21S11 alleles were detected by NGS in these individuals whereas only 13 different alleles were observed with fragment analysis. Several alleles had the same lengths but different sequences, e.g. four and three different alleles were detected by NGS with lengths determined by CE corresponding to allele 30 and allele 31, respectively.

AB - We sequenced the D21S11 locus in 77 individuals from Danish paternity cases using 454 FLX next generation sequencing (NGS) technology. All samples were also typed with the AmpFlSTR(®) Profiler Plus(®) or the AmpFlSTR(®) Identifiler(®) PCR Amplification kits as part of paternity investigations. In 18 of the confirmed trios, a genetic inconsistency was observed between one of the parents and the child at the D21S11 locus. NGS of the D21S11 locus revealed which allele had mutated from which parent to the child in 13 of these trios. All characterized mutations could be explained by single-step mutations in the longest sub-repeat of D21S11. A total of 53 of the 77 sequenced samples originated from unrelated individuals. Twenty different D21S11 alleles were detected by NGS in these individuals whereas only 13 different alleles were observed with fragment analysis. Several alleles had the same lengths but different sequences, e.g. four and three different alleles were detected by NGS with lengths determined by CE corresponding to allele 30 and allele 31, respectively.

U2 - 10.1016/j.fsigen.2013.06.011

DO - 10.1016/j.fsigen.2013.06.011

M3 - Journal article

C2 - 24315591

SN - 1872-4973

VL - 8

SP - 68

EP - 72

JO - Forensic Science International: Genetics

JF - Forensic Science International: Genetics

IS - 1

ER -