Identification of the sequence variations of 15 autosomal STR loci in a Chinese population
Identification of the sequence variations of 15 autosomal STR loci in a Chinese population
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中国人群15个常染色体STR基因座序列变异的鉴定
DOI：
10.3109/03014460.2014.897754
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发表时间：
2014-11-01
影响因子：
1.7
通讯作者：
Sun, Hongyu
中科院分区：
文献类型：
--
作者：
Chen, Wenjing;Cheng, Jianding;Sun, Hongyu
摘要背景：包括引物结合区中碱基变化和插入或缺失的DNA序列变异可能导致无效等位基因，并且如果这改变了等位基因梯之外的扩增片段的长度，则可以检测到梯外（OL）等位基因。目的：为了给法医学DNA分析提供准确可靠的DNA证据，有必要对常用STR基因座的序列变异进行研究。主题和方法：采用PlowerPlex 16 ®系统对21 934名中国无关个体的可疑无效等位基因和OL等位基因进行了验证和测序。结果：共检出无效等位基因17例，其中12种点突变16例，缺失19个碱基1例。无效等位基因的总频率为7.751 × 10−4。除vWA外，在Powerplant ®16系统的15个STR基因座上观察到归类为97种不同类型的844个OL等位基因。OL等位基因频率均低于0.01。结论：应采用可供选择的引物来确定等位基因，并对OL等位基因进行适当命名。应特别注意序列变异，因为不正确的命名可能导致错误的结论。
Abstract Background: DNA sequence variation including base(s) changes and insertion or deletion in the primer binding region may cause a null allele and, if this changes the length of the amplified fragment out of the allelic ladder, off-ladder (OL) alleles may be detected. Aim: In order to provide accurate and reliable DNA evidence for forensic DNA analysis, it is essential to clarify sequence variations in prevalently used STR loci. Subjects and methods: Suspected null alleles and OL alleles of PlowerPlex16® System from 21 934 unrelated Chinese individuals were verified by alternative systems and sequenced. Results: A total of 17 cases with null alleles were identified, including 12 kinds of point mutations in 16 cases and a 19-base deletion in one case. The total frequency of null alleles was 7.751 × 10−4. Eight hundred and forty-four OL alleles classified as being of 97 different kinds were observed at 15 STR loci of the PowerPlex®16 system except vWA. All the frequencies of OL alleles were under 0.01. Conclusion: Null alleles should be confirmed by alternative primers and OL alleles should be named appropriately. Particular attention should be paid to sequence variation, since incorrect designation could lead to false conclusions.