Item type: | Article | ||||||||||||||
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Journal or Publication Title: | Human mutation | ||||||||||||||
Publisher: | WILEY | ||||||||||||||
Place of Publication: | HOBOKEN | ||||||||||||||
Volume: | 30 | ||||||||||||||
Number of Issue or Book Chapter: | 1 | ||||||||||||||
Page Range: | pp. 115-122 | ||||||||||||||
Date: | January 2009 | ||||||||||||||
Institutions: | 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) | ||||||||||||||
Identification Number: |
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Classification: |
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Keywords: | DNA; MUTATIONS; CHIP; MitoChip; mitochondrial DNA; mutation detection; heteroplasmy; phylogeny | ||||||||||||||
Dewey Decimal Classification: | 500 Science > 540 Chemistry & allied sciences 500 Science > 570 Life sciences 600 Technology > 610 Medical sciences Medicine | ||||||||||||||
Status: | Published | ||||||||||||||
Refereed: | Yes, this version has been refereed | ||||||||||||||
Created at the University of Regensburg: | Partially | ||||||||||||||
Item ID: | 30649 |
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 ...

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.
Metadata last modified: 29 Sep 2021 07:40