1/16/2024 0 Comments Dot blot for deletion mutation![]() ![]() There are a set of recurrent point mutations in the mitochondrial DNA (mtDNA) that are responsible for common mitochondrial diseases, including MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes), MERRF (myoclonic epilepsy and ragged red fibers), LHON (Leber’s hereditary optic neuropathy), NARP (neuropathy, ataxia, retinitis pigmentosa), and Leigh syndrome. Mitochondrial disorders are clinically and genetically heterogeneous. Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Chinault AC, Shaw CA, Brundage EK, Tang LY, Wong LJ.Preparation and validation of PCR-generated positive controls for diagnostic dot blotting. The mitochondrial 13513 G > A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, et al.Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber’s hereditary optic neuropathy mitochondrial DNA mutation. Brown MD, Trounce IA, Jun AS, Allen JC, Wallace DC.G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. Shtilbans A, Shanske S, Goodman S, Sue CM, Bruno C, Johnson TL, et al.MELAS: clinical features, biochemistry, and molecular genetics. Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, et al.Molecular analysis of mitochondrial DNA point mutations by polymerase chain reaction. Direct detection of multiple point mutations in mitochondrial DNA. Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach. Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, et al.Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. In addition, a nonradioactive Southern blot hybridization protocol for the analysis of mtDNA large deletions is also described. This method allows the detection of low percentage of mutant heteroplasmy. In this chapter, we describe a multiplex PCR/allele-specific oligonucleotide (ASO) hybridization method for the screening of 13 common point mutations. Additionally, Kearns–Sayre syndrome and Pearson syndrome are caused by large mtDNA deletions. Clinical heterogeneity may be due to the degree of mutant load (heteroplasmy) and distribution of heteroplasmic mutations in affected tissues. Most of the pathogenic mtDNA point mutations are present in the heteroplasmic state, meaning that the wild-type and mutant-containing mtDNA molecules are coexisting. ![]()
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