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不同扩增条件下线粒体DNA长度异质性的改变

Alterations of length heteroplasmy in mitochondrial DNA under various amplification conditions.

作者信息

Seo Seung B, Jang Byoung S, Zhang Aihua, Yi Jin A, Kim Hye Y, Yoo Seong H, Lee Yoon S, Lee Soong D

机构信息

Department of Forensic Medicine, College of Medicine, Seoul National University, 28 Yongon-Dong, Chongno-Gu, Seoul 110-799, South Korea.

出版信息

J Forensic Sci. 2010 May;55(3):719-22. doi: 10.1111/j.1556-4029.2010.01321.x. Epub 2010 Feb 25.

Abstract

There are several areas within mitochondrial DNA that show length heteroplasmy. If the heteroplasmy pattern is unique and consistent for each person, it may be used to support an interpretation of exclusion in identity testing. We investigated whether the length heteroplasmy pattern would be consistent under different amplification conditions. We also determined whether various amplification parameters would affect the homopolymeric cytosine stretches (C-stretch) in HV1. Monoclonal samples tended to be heteroplasmic after amplification. After several repetitions, C-stretch patterns of all samples were inconsistent even under the same amplification conditions. Increased PCR cycles and high template concentrations resulted in a more frequent heteroplasmic tendency. These amplification parameters seem to have little effect if samples are not long enough in C-stretch or total length of the segment from nt 16180 to nt 16193. It is suggested that the pattern of length heteroplasmy cannot be used as an additional polymorphic marker.

摘要

线粒体DNA中有几个区域表现出长度异质性。如果每个人的异质性模式是独特且一致的,那么它可用于支持身份鉴定中排除的解释。我们研究了长度异质性模式在不同扩增条件下是否一致。我们还确定了各种扩增参数是否会影响高变区1(HV1)中的同聚胞嘧啶延伸序列(C-延伸序列)。单克隆样本在扩增后往往呈现异质性。经过几次重复后,即使在相同的扩增条件下,所有样本的C-延伸序列模式也不一致。PCR循环数增加和高模板浓度导致异质性倾向更频繁出现。如果样本在C-延伸序列或从nt 16180到nt 16193片段的总长度不够长,这些扩增参数似乎影响不大。建议长度异质性模式不能用作额外的多态性标记。

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