Minisequencing mitochondrial DNA pathogenic mutations.

BMC Medical Genetics
Vanesa Alvarez-IglesiasAntonio Salas

Abstract

There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA) diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations. We here propose a minisequencing assay for the analysis of mtDNA mutations. In a single reaction, we interrogate a total of 25 pathogenic mutations distributed all around the whole mtDNA genome in a sample of patients suspected for mtDNA disease. We have detected 11 causal homoplasmic mutations in patients suspected for Leber disease, which were further confirmed by standard automatic sequencing. Mutations m.11778G>A and m.14484T>C occur at higher frequency than expected by change in the Galician (northwest Spain) patients carrying haplogroup J lineages (Fisher's Exact test, P-value < 0.01). The assay performs well in mixture experiments of wild:mutant DNAs that emulate heteroplasmic conditions in mtDNA diseases. We here developed a minisequencing genotyping method for the screening of the most common pathogenic mtDNA mutations which is simple, fast, and low-cost. The technique is robust and reproducible and can easily be im...Continue Reading

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Citations

Nov 26, 2010·Molekuliarnaia biologiia·I O MazuninR I Sukernik
Apr 8, 2011·BMC Medical Genetics·Vanesa Álvarez-IglesiasAntonio Salas
Dec 19, 2009·PloS One·Antonio SalasUNKNOWN Grupo de investigación ESIGEM (Estudio Sobre la Influencia Genética en la Enfermedad Meningocócica)
Sep 4, 2012·International Journal of Legal Medicine·Hans-Jürgen BandeltAntonio Salas
Oct 29, 2009·Electrophoresis·María CerezoAntonio Salas
Apr 3, 2012·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Ana Mosquera-MiguelAntonio Salas
Oct 8, 2009·Electrophoresis·Carina M SchlebuschHimla Soodyall

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Methods Mentioned

BETA
PCR
genotyping
electrophoresis

Software Mentioned

AutoDimer
SNaPshot
MITOMAP
Primer3
BLAST

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