Utility of array CGH in molecular diagnosis of mitochondrial disorders.
Array comparative genomic hybridization (aCGH) is a powerful clinical diagnostic tool that can be used to evaluate copy number changes in the genome. Targeted aCGH provides a much higher resolution in targeted gene regions to detect copy number changes within single gene or single exon. A custom-designed oligonucleotide aCGH platform (MitoMet(®)) has been developed to provide tiled coverage of the entire 16.6-kb mitochondrial genome and high-density coverage of a set of nuclear genes associated with metabolic and mitochondrial related disorders, for quick evaluation of copy number changes in both genomes (1). The high-density probes in mitochondrial genome on the MitoMet(®) array allow estimation of mtDNA deletion breakpoints and deletion heteroplasmy (2). This technology is particularly useful as a complementary diagnostic test to detect large deletions in genes related to mitochondrial disorders.
Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jwang7@bcm.edu
Jing
J
Wang
Mrudula
M
Rakhade
D002232:Carbocyanines / Q000302:isolation & purification / Q000378:metabolism; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004262:DNA Restriction Enzymes / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000096:biosynthesis / Q000235:genetics / Q000378:metabolism; D003845:Deoxycytosine Nucleotides / Q000302:isolation & purification / Q000378:metabolism; D054629:Genome, Mitochondrial / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D013194:Staining and Labeling
D002232:Carbocyanines; C544355:Cy5-dCTP; D004272:DNA, Mitochondrial; D003845:Deoxycytosine Nucleotides; D004262:DNA Restriction Enzymes