中国法医学杂志2024，Vol.39Issue(6) ：760-762,765.DOI:10.13618/j.issn.1001-5728.2024.06.022

DXS10103基因座侧翼序列对等位基因分型的影响

Effect of flanking sequences of the DXS10103 locus on allele typing

贺航 郝世诚 张金佩 杨洋 陈冲 袁丽
中国法医学杂志2024，Vol.39Issue(6) ：760-762,765.DOI:10.13618/j.issn.1001-5728.2024.06.022
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  • NETL
  • NSTL
  • 万方数据

DXS10103基因座侧翼序列对等位基因分型的影响

Effect of flanking sequences of the DXS10103 locus on allele typing

贺航 1郝世诚 1张金佩 1杨洋 2陈冲 3袁丽1
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作者信息

  • 1. 证据科学教育部重点实验室(中国政法大学),北京 100088
  • 2. 北京天平司法鉴定中心,北京 100025
  • 3. 北京通达首诚司法鉴定所,北京 100192
  • 折叠

摘要

1对母女样本分别使用 GSTARTM 30X 和 AGCU X19商品化试剂盒检验,发现DXS10103 基因座1个等位基因在2个试剂盒检验结果中分型不一致,相差 2个碱基.查询DXS10103 基因座的序列,在上游侧翼距离核心序列 5′端的第 48 至第 29 碱基之间存在[CA]的重复.该对母女样本经高通量测序,2 人侧翼序列的[CA]重复结构中发现了 2个碱基[CA]的插入.GSTARTM 30X 试剂盒中前导引物的位置策略性地靠近核心序列,有效地防止了侧翼[CA]重复序列的干扰.相比之下,AGCU X19 试剂盒的扩增区域包含[CA]二核苷酸的重复结构,在 2 个样本中检测到 2个碱基的插入,并存在因侧翼序列的重复结构而产生的影子峰.类似的情况出现在D21S1270基因座上.根据本此研究,建议在为该类型的基因座设计引物时,避开侧翼区的重复序列,以防止由其发生的突变及影子峰.

Abstract

The DNA of the two samples was amplified by PCR using the GSTARTM 30X and AGCU X19 commercial kits,respectively,and it was found that the genotyping of the two kits was different at the DXS10103 locus,with a difference of 2 base pairs.After analyzing the sequence information of DXS10103 locus,it was found that there is a repeat sequence of[CA]from base 48 to base 29 at the 5′ end upstream of the core repeat sequence.After high-throughput sequencing detection,2-base[CA]insertion was found in the repetitive structure of the flanking sequence.The positioning of the forward primer in the GSTARTM 30X kit was strategically located near the core sequences,effectively preventing any interference from the[CA]repeated sequence in the surrounding sequence.In contrast,the AGCU X19 kit amplification region included a repeat structure of the[CA]dinucleotide,a 2-base insertion was detected in the two samples,and stutters due to the repeat structure of the flanking sequence were detected.A similar situation also exists for the D21S1270 locus.Based on the findings in this study,when designing primers for the locus,it is recommended to avoid repetitive sequences in the flanking regions to prevent the occurrence of mutations in the flanking sequences and the resulting effects of stutter.

关键词

核心序列/DXS10103/侧翼序列/短串联重复片段

Key words

Core repeat sequences/DXS10103/Flanking sequences/Short tandem repeats

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出版年

2024
中国法医学杂志
中国法医学会

中国法医学杂志

CSTPCDCSCD
影响因子：0.352
ISSN：1001-5728
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