High levels of mitochondrial DNA heteroplasmy in single hair roots: Reanalysis and revision
High levels of mitochondrial DNA heteroplasmy in single hair roots: Reanalysis and revision
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DOI：
10.1002/elps.200390149
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发表时间：
2003-04-01
期刊：
影响因子：
2.9
通讯作者：
Kotzbach, R
中科院分区：
文献类型：
--
作者：
Grzybowski, T;Malyarchuk, BA;Kotzbach, R
The present study demonstrates a reinvestigation of the mitochondrial DNA sequence heteroplasmy, which was previously found by the use of nested polymerase chain reaction (PCR) technique in single hairs of 13 individuals. The direct PCR approach was used for the amplification of mitochondrial DNA and a phylogenetic analysis was applied to both data sets for the verification of the authenticity of sequences. The analysis of the sequencing results obtained from the same hair DNA comparative extracts - but using two different techniques - shows that direct mitochondrial DNA amplification results in a considerably lower number of mixed positions.大多数已确认的异质变异优先发生在线粒体 DNA 高变位点（突变热点）。然而，巢式 PCR 后在四种提取物中观察到的异质突变模式与帕特明显不同。自然突变的术语。其中一些罕见的多态性应该被修改为与系统发育预期不一致。 The results of the present study contribute to the earlier reports by indicating that phylogenetic analysis is an effective tool in a posteriori quality check of mitochondrial DNA data.
The present study demonstrates a reinvestigation of the mitochondrial DNA sequence heteroplasmy, which was previously found by the use of nested polymerase chain reaction (PCR) technique in single hairs of 13 individuals. The direct PCR approach was used for the amplification of mitochondrial DNA and a phylogenetic analysis was applied to both data sets for the verification of the authenticity of sequences. The analysis of the sequencing results obtained from the same hair DNA comparative extracts - but using two different techniques - shows that direct mitochondrial DNA amplification results in a considerably lower number of mixed positions. The majority of the confirmed heteroplasmic variants preferentially occurs in mitochondrial DNA hypervariable sites (mutational hotspots). However, the pattern of heteroplasmic mutations observed in four extracts after nested PCR significantly differs from the pat. tern of natural mutations. Some of these rare polymorphisms should be revised as inconsistent with phylogenetic expectations. The results of the present study contribute to the earlier reports by indicating that phylogenetic analysis is an effective tool in a posteriori quality check of mitochondrial DNA data.