Hartmann, Anne and Thieme, Marian and Nanduri, Lahiri K. and Stempfl, Thomas and Moehle, Christoph and Kivisild, Toomas and Oefner, Peter J. (2009) Validation of Microarray-Based Resequencing of 93 Worldwide Mitochondrial Genomes. HUMAN MUTATION, 30 (1). pp. 115-122. ISSN 1059-7794, 1098-1004
Full text not available from this repository. (Request a copy)Abstract
The human mitochondrial genome consists of a multicopy, circular dsDNA molecule of 16,569 base pairs. It encodes for 13 proteins, two ribosomal genes, and 22 tRNAs that are essential in the generation of cellular ATP by oxidative phosphorylation in eukaryotic cells. Germline mutations in mitochondrial DNA (mtDNA) are an important cause of maternally inherited diseases, while somatic mtDNA mutations may play important roles in aging and cancer. mtDNA polymorph, isms are also widely used in population and forensic genetics. Therefore, methods that allow the rapid, inexpensive and accurate sequencing of mtDNA are of great interest. One such method is the Affymetrix GeneChip(R) Human Mitochondrial Resequencing Array 2.0 (MitoChip v.2.0) (Santa Clara, CA). A direct comparison of 93 worldwide mitochondrial genomes sequenced by both the MitoChip and dideoxy terminator sequencing revealed an average call rate of 99.48% and an accuracy of >= 99.98% for the MitoChip. The good performance was achieved by using in,house software for the auitomated analysis of additional probes on the array that cover the most common haplotypes in the hypervariable regions (HVR). Failure to call a base was associated mostly with the presence of either a run of >= 4C bases or a sequence variant within 12 bases up or downstream of that base. A major drawback of the MitoChip is its inability to detect insertions/deletions and its low sensitivity and specificity in the detection of heteroplasmy. However, the vast majority of haplogroup defining polymorphism in the mtDNA phylogeny could he called unambiguously and more rapidly than with conventional sequencing.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DNA; MUTATIONS; CHIP; MitoChip; mitochondrial DNA; mutation detection; heteroplasmy; phylogeny |
| Subjects: | 500 Science > 540 Chemistry & allied sciences |
| Divisions: | Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner) Chemistry and Pharmacy > Institut für Analytische Chemie, Chemo- und Biosensorik > Bioanalytik und Biosensorik (Prof. Joachim Wegener) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 12 Oct 2020 09:22 |
| Last Modified: | 12 Oct 2020 09:22 |
| URI: | https://pred.uni-regensburg.de/id/eprint/29737 |
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