Results 231 to 240 of about 177,132 (246)

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
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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
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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
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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
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Mutational analysis of mitochondrial DNA of children with Rett syndrome

Pediatric Neurology, 1997
The present study was undertaken to identify whether mitochondrial DNA (mtDNA) mutations were involved in the pathogenesis of Rett syndrome (RS). Mitochondrial DNA from 15 children with RS and 14 of their mothers was analyzed. No large deletions in mtDNA were found using Southern blot with a full-length mtDNA as a probe.
J, Tang, Y, Qi, X H, Bao, X R, Wu
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Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA

The Lancet, 1995
not ...
WENGLER GS, NOTARANGELO LD, GILIANI, Silvia Clara, PIRASTRU MG, UGAZIO AG, PAROLINI O.   +5 more
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Mutational analysis of the CG recognizing DNA methyltransferase SssI: Insight into enzyme–DNA interactions

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, 2009
To characterize important steps of DNA methylation by M.SssI, a prokaryotic DNA-(cytosine C5)-methyltransferase (C5-MTase) sharing the specificity of eukaryotic C5-MTases (5'-CG-3'), ten amino acids, selected on the basis of sequence alignments and a computational model, were subjected to mutational analysis.
Maria V, Darii, Natalia A, Cherepanova, Oksana M, Subach, Olga V, Kirsanova, Tamás, Raskó, Krystyna, Slaska-Kiss, Antal, Kiss, Dominique, Deville-Bonne, Michèle, Reboud-Ravaux, Elizaveta S, Gromova   +9 more
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[22] Mutational analysis of bacteriophage φ29 DNA polymerase

1995
Publisher Summary This chapter discusses the mutational analysis of bacteriophage φ29 DNA polymerase. The fact that φ29 DNA polymerase is a small (66-kDa) single-subunit enzyme containing well-characterized enzymatic activities 1 makes this polymerase an appropriate system for structure-function studies.
Luis Blanco, Margarita Salas
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Microarray Technology for Mutation Analysis of Low-Template DNA Samples

2007
Microarrays containing oligonucleotide mutation probes are emerging as useful platforms for the diagnosis of genetic disease. Herein, we describe the development and validation of an in-house microarray suitable for the diagnosis of common cystic fibrosis (CF) mutations in low-template DNA samples such as those taken for preimplantation genetic ...
Chelsea, Salvado, David, Cram
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Are somatic mitochondrial DNA mutations relevant to our health? A challenge for mutation analysis techniques

Expert Opinion on Medical Diagnostics, 2007
A role of somatic mitochondrial (mt)DNA mutations in ageing and degenerative diseases was postulated decades ago, but this hypothesis remains untested. A substantial number of genetically engineered 'mutator' mouse lines with increased mtDNA mutation rates were expected to test the hypothesis.
Yevgenya, Kraytsberg, Alexander, Nicholas, Konstantin, Khrapko   +2 more
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