Sequence variation in humans and other primates at six short tandem repeat loci used in forensic identity testing
Sequence variation in humans and other primates at six short tandem repeat loci used in forensic identity testing
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DOI：
10.1016/s0379-0738(00)00388-1
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发表时间：
2001-06-01
影响因子：
2.2
通讯作者：
Walsh, PS
中科院分区：
文献类型：
--
作者：
Lazaruk, K;Wallin, J;Walsh, PS
对用于人类身份鉴定的6个不同短串联重复序列（STR）基因座FGA、D3S1358、vWA、CSF1PO、TPOX和TH01的大量等位基因进行测序，以支持通过等位基因大小进行荧光STR DNA分型的稳健性。其中一些基因座（FGA、vWA、TH01）的序列信息是已发表工作的延伸，而关于D3S1358、CSF1PO和TPOX基因座没有广泛的序列信息。每个基因座的等位基因的测序提供了关于常见等位基因和长度与常见等位基因不同的等位基因的真实核苷酸长度的定量数据。所有通过这些STR基因座的荧光分型鉴定为“非阶梯”等位基因的等位基因已被证明是真长度变异等位基因。在D3S1358和CSF1PO基因座的测序允许为这些基因座建立一个共同的命名。在FGA基因座处证实了口吃百分比与核心串联重复序列长度之间的相关性。其中核心串联重复被不同序列的重复单元中断的等位基因具有降低的断续百分比。将来自三种非人类灵长类动物（黑猩猩、猩猩和大猩猩）的DNA样品与人类序列进行比较，结果显示在基因座之间的同源性存在显著差异。引物结合位点突变对特定基因座扩增效率的影响，以及用于解释基因座杂合等位基因扩增不平衡的方法。(C)2001爱思唯尔科学爱尔兰有限公司保留所有权利。
A large number of alleles from the six different short tandem repeat (STR) loci FGA, D3S1358, vWA, CSF1PO, TPOX and TH01, used in human identity testing were sequenced to provide support for the robustness of fluorescent STR DNA typing by allele size. Sequence information for some of these loci (FGA, vWA, TH01) is an extension of published work, whereas no extensive sequence information is available with respect to the D3S1358, CSF1PO, and TPOX loci. Sequencing of alleles at each locus has provided quantitative data with respect to the true nucleotide length of common alleles, and of alleles that vary in length from the common alleles. All alleles that were identified as "off-ladder" alleles through fluorescent typing at these STR loci have proven to be true length variant alleles. Sequencing at the D3S1358 and CSF1PO loci allowed for the establishment of a common nomenclature for these loci. A correlation between percent stutter and the length of the core tandem repeat is demonstrated at the FGA locus. Alleles in which the core tandem repeat is interrupted by a repeat unit of different sequence have a reduced percent stutter. DNA samples from three non-human primates (chimpanzee, orangutan, and gorilla) were compared to the human sequences, and shown to differ markedly across loci with respect to their homology. The effects of primer binding site mutations on the amplification efficiency at a particular locus, and methods used to interpret amplification imbalance of heterozygous alleles at a locus is also addressed. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.