A DNA microarray system for forensic SNP analysis

A DNA microarray system for forensic SNP analysis
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DOI:
10.1016/j.forsciint.2004.09.134
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发表时间:
2005-11-25
影响因子:
2.2
通讯作者:
Allen, M
Allen, M
中科院分区:
医学3区
文献类型:
--
作者:
Divne, AM;Allen, M

文献摘要

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法医DNA分析通常使用多态性短串联重复(STR)标记进行。然而,对于降解或微小的DNA样本,分析短片段的常染色体单核苷酸多态性(snp)可能更成功。此外,由于每个细胞中线粒体DNA的高拷贝数,线粒体DNA (mtDNA)的测序通常在高度降解或稀缺的样品上进行。由于mtDNA完整基因组序列的数量不断增加,除了分析非编码变异外,还可以分析编码区多态性,从而提高mtDNA分析的有限辨别能力。由于编码区的序列分析将需要比法医样本中通常存在的更多的材料,因此需要一种替代的SNP分析方法。我们已经开发了一种基于单色微阵列的SNP检测系统,用于有限的法医材料。该方法基于混合通用标签阵列之前的解极小序列。在法医芯片的第一个轮廓中,同时分析了12个核和21个线粒体SNP标记的组合。芯片上的线粒体标记在高变区和编码区都有多态性。尽管当前系统中的标记数量有限,但它可以很容易地扩展以产生更大的辨别能力。当微阵列分析得到充分发展时,它将为法医样品的高效敏感SNP分析提供一个有前途的系统。2004爱思唯尔爱尔兰有限公司版权所有。
Forensic DNA analysis is routinely performed using polymorphic short tandem repeat (STR) markers. However, for degraded or minute DNA samples, analysis of autosomal single nuclectide polymorphisms (SNPs) in short fragments might be more successful. Furthermore, sequencing of mitochondrial DNA (mtDNA) is often performed on highly degraded or scarce samples due to the high copy number of mtDNA in each cell. Due to the increasing number of complete mtDNA genome sequences available, the limited discrimination power of an mtDNA analysis, may be increased by analysis of coding region polymorphisms in addition to the non-coding variation. Since sequence analysis of the coding region would require more material than generally present in forensic samples, an alternative SNP analysis approach is required. We have developed a one-colour microarray-based SNP detection system for limited forensic materials. The method is based on minisequencing in solution prior to hybridisation to universal tag-arrays. In a first outline of a forensic chip, a combination of 12 nuclear and 21 mitochondrial SNP markers are analysed simultaneously. The mitochondrial markers on the chip are polymorphisms within the hypervariable region as well as in the coding region. Even though the number of markers in the current system is limited, it can easily be extended to yield a greater power of discrimination. When fully developed, microarray analysis provides a promising system for efficient sensitive SNP analysis of forensic samples in the future. (c) 2004 Elsevier Ireland Ltd. All rights reserved.