PMID: 8582049Oct 1, 1995Paper

Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis

Clinical Biochemistry
M JakschC Kilger

Abstract

Mitochondrial cytopathies such as Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), and myoclonus epilepsy with red ragged fibers (MERRF) are associated with distinct mtDNA point mutations (for review see 1). LHON, for example, is related to at least 14 mtDNA point mutations within different mitochondrially encoded respiratory subunit genes. In addition, the number of newly found LHON-related mutations is increasing. In the light of the large number and the dispersed distribution of these point mutations throughout the mitochondrial genome, screening for these by sequencing all of suspected loci is laborious and time-consuming. In order to facilitate a rapid screening for mitochondrial point mutations we have evaluated the use of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) for the analysis of the human mitochondrial genome. In a first evaluation step we created a variety of pUC18 clones derived from mitochondrial control region amplifications with defined sequence differences and length. These clones were used as standard material for an optimization of the PCR-SSCP analysis. The optimized PCR-SSCP was then applied ...Continue Reading

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Citations

Jan 26, 2008·Molecular Biotechnology·V Konstantinos KakavasV Argiris Noulas
Nov 24, 2001·Mechanisms of Ageing and Development·Glenn S GerhardChristopher D Gocke
Jul 20, 2004·Journal of Neurology, Neurosurgery, and Psychiatry·S KiechlJ Willeit
Feb 5, 2010·Clinical Chemistry and Laboratory Medicine : CCLM·Yongjun LuoYuqi Gao
Oct 12, 2000·Biochemical and Biophysical Research Communications·R HorvathM Jaksch
Mar 21, 2001·Biotechnology & Genetic Engineering Reviews·L A Tully, B C Levin
Jan 9, 2016·Critical Reviews in Food Science and Nutrition·S Umesha, H M Manukumar
Sep 8, 2010·Mitochondrion·Laurent TillementVassilios Papadopoulos
Jul 6, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Rui BiYong-Gang Yao
Jun 15, 1997·Analytical Chemistry·D J AndersonK A Davis
Dec 13, 2005·The Journal of Experimental Biology·Ji-gang DaiHong Wei

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