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Affymetrix人类线粒体重测序芯片的法医应用

Forensic application of the Affymetrix human mitochondrial resequencing array.

作者信息

Vallone P M, Jakupciak J P, Coble M D

机构信息

National Institute of Standards and Technology (NIST), Biochemical Sciences Division, 100 Bureau Dr., M/S 8311, Gaithersburg, MD 20899-8311, United States.

出版信息

Forensic Sci Int Genet. 2007 Jun;1(2):196-8. doi: 10.1016/j.fsigen.2007.01.016. Epub 2007 Mar 7.

Abstract

In the field of forensic DNA testing, sequencing regions of the mitochondrial genome is performed when insufficient genomic DNA is present for traditional autosomal short tandem repeat (STR) testing. Sequencing coding region polymorphisms in the mitochondrial genome can be useful for resolving individuals who have the identical HV1 and HV2 control region sequence. Various methods and strategies have been established to interrogate coding region polymorphisms. These range from SNP assays probing sites most likely to differentiate individuals based on their HV1/HV2 sequence to the use of mass spectrometry to pyrosequencing. Here we evaluate the potential of the Affymetrix GeneChip Mitochondrial Resequencing Array (version 2.0) for forensic applications.

摘要

在法医DNA检测领域,当用于传统常染色体短串联重复序列(STR)检测的基因组DNA不足时,会对线粒体基因组区域进行测序。对线粒体基因组中的编码区多态性进行测序,有助于区分那些HV1和HV2控制区序列相同的个体。已经建立了多种方法和策略来检测编码区多态性。这些方法从基于HV1/HV2序列探测最有可能区分个体的位点的单核苷酸多态性(SNP)分析,到使用质谱分析法再到焦磷酸测序法。在此,我们评估了Affymetrix基因芯片线粒体重测序阵列(2.0版)在法医应用中的潜力。

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