Results 311 to 320 of about 299,286 (332)

Analysis of Mitochondrial DNA Mutations: Deletions

2003
Although the precise mechanisms of the aging process remain poorly understood, a plausible theory for cellular dysfunction and deterioration during aging involves mitochondria (1, 2). The major function of mitochondria is to generate energy for cellular processes in the form of ATP by oxidative phosphorylation. Mitochondria contain their own DNA (mtDNA)
R W, Taylor, T M, Wardell, E L, Blakely, G M, Borthwick, E J, Brierley, D M, Turnbull   +5 more
openaire   +2 more sources

Mutation identification DNA analysis system (MIDAS) for detection of known mutations

Electrophoresis, 1999
We introduce a novel experimental strategy for DNA mutation detection named the Mismatch Identification DNA Analysis System (MIDAS) [1, 2], which has an associated isothermal probe amplification step to increase target DNA detection sensitivity to attomole levels.
L S, Bazar, G B, Collier, P G, Vanek, B A, Siles, Y W, Kow, P W, Doetsch, R P, Cunningham, J G, Chirikjian   +7 more
openaire   +2 more sources

Mutation Surveyor: Software for DNA Sequence Analysis

2010
Advances in high-throughput sequencing techniques had presented a significant challenge to the processing capabilities of genetic laboratories. However, recent developments in the field of semi-automated mutation detection have revolutionised the task of mutation detection.This chapter provides user information for one commercially available program ...
Jayne A L, Minton, Sarah E, Flanagan, Sian, Ellard   +2 more
openaire   +2 more sources

Point mutation analysis of archived cytogenetic slide DNA

Cytogenetic and Genome Research, 1996
Archived Giemsa-stained cytogenetic slide repositories represent valuable DNA resources for medical, scientific, and forensic studies. Sequencing readily identified a Charcot-Marie-Tooth disease point mutation in a 209-bp PCR amplified product. With optimal PCR primers and amplification conditions, our protocol quickly and reliably isolated sufficient ...
H, Sago, J D, Goldberg, R V, Lebo
openaire   +2 more sources

DNA mutation detection and analysis using miniaturized microfluidic systems

Expert Review of Molecular Diagnostics, 2006
Identification of genetic sequence variations occurring on a population-wide scale is key to unraveling the complex interactions that are the underlying cause of many medical disorders and diseases. A critical need exists, however, for advanced technology to enable DNA mutation analysis to be performed with significantly higher throughput and at ...
Maria I, Handal, Victor M, Ugaz
openaire   +2 more sources

DNA microarray analysis of fim mutations in Escherichia coli

Molecular Genetics and Genomics, 2002
Bacterial adhesion is often mediated by complex polymeric surface structures referred to as fimbriae. Type 1 fimbriae of Escherichia coli represent the archetypical and best characterised fimbrial system. These adhesive organelles mediate binding to D-mannose and are directly associated with virulence in the urinary tract.
Schembri, M. A., Ussery, D. W., Workman, C., Hasman, H., Klemm, P.   +4 more
openaire   +3 more sources

Analysis of Mutation Mechanisms in Human Mitochondrial DNA

Molecular Biology, 2005
The cause of the high variability of human mitochondrial DNA (mtDNA) remains largely unknown. Three mechanisms of mutagenesis that might account for the generation of nucleotide substitutions in mtDNA have been analyzed: deamination of DNA nitrous bases caused by deamination agents, tautomeric proton migration in nitrous bases, and the hydrolysis of ...
I. V. Kornienko, B. A. Malyarchuk
openaire   +3 more sources

DNA sequence analysis of prm− mutations of coliphage lambda

Gene, 1980
Nucleotide sequence changes associated with mutation of the prm promoter of bacteriophage lambda have been determined. Prm-mutations have been assigned to two classes. Class I mutations appear to affect the interaction of RNA polymerase with prm; six class I mutations affect four sites, located 14, 33, 38, and 39 bp preceding the prm transcription ...
E D, Rosen, J L, Hartley, K, Matz, B P, Nichols, K M, Young, J E, Donelson, G N, Gussin   +6 more
openaire   +2 more sources

DNA Mutation Analysis in Heterotaxy

2006
Heterotaxy refers to the abnormal arrangement of internal organs in relation to each other. It is characterized by complex cardiac malformations that are thought to result from abnormal left-right patterning in early embryonic development. Mutations in four genes have been identified in human heterotaxy. ZIC3, a zinc finger transcription factor, causes
openaire   +2 more sources

Molecular analysis of mitochondrial DNA mutations from bleomycin-treated rats

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2002
In our previous studies, we have shown the mutagenicity of bleomycin (BLM) at the nuclear hprt locus. In the present study we have analyzed mutagenic effects of BLM in mitochondrial DNA (mtDNA) using short extension-PCR (SE-PCR) method for detection of low-copy deletions. Fisher 344 rats were treated with a single dose of BLM and total DNA preparations
Magomed, Khaidakov, Mugimane G, Manjanatha, Anane, Aidoo   +2 more
openaire   +2 more sources