Variants in linkage status at D5S818 detected by multiple STR kits comparison and Sanger sequencing.
Variants in linkage status at D5S818 detected by multiple STR kits comparison and Sanger sequencing.
复制标题
通过多个 STR 试剂盒比较和 Sanger 测序检测到 D5S818 连锁状态的变异
DOI：
10.1002/mgg3.1765
复制
发表时间：
2021-09
影响因子：
2
通讯作者：
Sun K
中科院分区：
文献类型：
--
作者：
Shao C;Yao Y;Pan X;Wu M;Zhang B;Xu H;Xie J;Sun K
D5S818在法医亲本检测中由于零等位基因而被报道存在差异。然而，更多的病例可能被忽略，因为在没有检测到父母和后代之间的遗传差异的情况下，错过了比例为零的等位基因。本研究在回顾1282例中国汉族人群中2824例样本的基础上，用PowerPlex®21系统对D5S818位点的12个零等位基因进行了检测，发现D5S818的零等位基因12出现率较高。测序结果显示，在等位基因12为空的样本中，在核心重复区域的第7[AGAT]重复序列中，鸟嘌呤(G)转变为腺嘌呤(A)的新变异伴随rs1187948322。法医STR分型可能受益于这一发现：(1)针对敏感人群改进了CE图谱体系的引物设计；(2)丰富了多态信息，提高了NGS基因分型体系的准确性和精密度。通过不同的商品化STR试剂盒对D5S818的峰面积进行了分析。建议对观察到的峰面积减小的纯合子给予更多的关注，尤其是对中国汉族人群的样本。在中国汉族人群中，使用PowePlex 21®系统对1282例常规病例的2824份样本进行基因分型，发现D5S818基因座上存在12个零等位基因，其发生率高于以往报道。通过克隆测序鉴定D5S818核心重复区和侧翼区变异的连锁状态。用不同的STR试剂盒对D5S818的峰面积进行了分析。建议在科学研究和法医学应用中更多地关注多基因系统中不同基因座之间的峰面积平衡问题。
D5S818 discrepancies have been reported in forensic parental testing due to null alleles. However, more cases may be ignored since proportional null alleles were missed without detection of heredity discrepancy between parents and offspring. In this study, null allele 12 at D5S818 was detected by the PowerPlex® 21 System with a higher occurrence rate on the basis of review on 2824 samples from the 1282 routine cases in Chinese Han population. Sequencing results revealed novel variant of guanine (G) into adenine (A) in the 7th [AGAT] repeats in the core repeat region accompanied by rs1187948322 in the samples with null allele 12. Forensic STR typing may benefit from this discovery: (1) primer design of CE profiling system could be improved for sensitive population and (2) polymorphic information could be enriched for the accuracy and precision of NGS genotyping system. Peak area of D5S818 was also analyzed through different commercial STR kits. It is suggested that more attention should be paid on observed homozygosity with reduced peak area, especially for the samples from Chinese Han population. Null allele 12 was detected in D5S818 locus with a higher occurrence rate than previously reported through the genotyping profiles of 2824 samples from 1282 routine cases using PowePlex 21® system in a Chinese Han population. Linkage status of the variants between the core repeat region and the flanking region of D5S818 was identified on the basis of clone sequencing. Peak area was also analyzed for D5S818 using different STR kits. The balance of peak areas between different loci in a multiplex system was suggested more attention both in the scientific research and forensic applications.
登录
查看更多内容
中国人群15个常染色体STR基因座序列变异的鉴定
影响因子：
1.7
作者：
Chen, Wenjing;Cheng, Jianding;Sun, Hongyu
通讯作者：
Sun, Hongyu
影响因子：
1.5
作者：
Jiang, Wenxiao;Kline, Margaret;Wang, Yue
通讯作者：
Wang, Yue
影响因子：
1.6
作者：
Ricci, Ugo;Melean, German;Genuardi, Maurizio
通讯作者：
Genuardi, Maurizio
影响因子：
3.1
作者：
Parson, Walther;Ballard, David;Phillips, Christopher
通讯作者：
Phillips, Christopher
影响因子：
3.3
作者：
Gattepaille, Lucie M.;Jakobsson, Mattias
通讯作者：
Jakobsson, Mattias