Characterization of mutations and sequence variants in the D21S11 locus by next generation sequencing
Characterization of mutations and sequence variants in the D21S11 locus by next generation sequencing
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DOI：
10.1016/j.fsigen.2013.06.011
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发表时间：
2014-01-01
影响因子：
3.1
通讯作者：
Morling, Niels
中科院分区：
文献类型：
--
作者：
Rockenbauer, Eszter;Hansen, Stine;Morling, Niels
我们使用454 FLX下一代测序（NGS）技术对77例丹麦亲子鉴定病例中的D21S11位点进行测序。作为亲子鉴定调查的一部分，所有样本还使用AmpFlSTR（R）Profiler Plus（R）或AmpFlSTR（R）Identifiler（R）PCR扩增试剂盒进行分型。在18个确认的三人组中，在D21S11位点上观察到父母之一和孩子之间的遗传不一致。D21S11位点的NGS揭示了在这些三人组中的13个中，哪个等位基因从哪个父母突变成了孩子。所有特征性突变可以通过D21S11的最长亚重复序列中的单步突变来解释。在77个测序样本中，共有53个来自无关个体。NGS检测到20种不同的D21S11等位基因，而片段分析仅观察到13种不同的等位基因。几个等位基因具有相同的长度但不同的序列，例如，通过NGS检测到四个和三个不同的等位基因，通过CE确定的长度分别对应于等位基因30和等位基因31。(C)2013爱思唯尔爱尔兰有限公司版权所有。
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 (R) Profiler Plus (R) or the AmpFlSTR (R) Identifiler (R) 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. (C) 2013 Elsevier Ireland Ltd. All rights reserved.