Results 271 to 280 of about 188,397 (314)

DNA mutation analysis of Gaucher patients

American Journal of Medical Genetics, 1992
AbstractWe evaluated 62 Gaucher patients to determine whether patients with similar phenotypes had the same DNA point mutations. Genomic DNA from these Gaucher patients was screened for the 3 most frequent single‐point mutations, occurring in 69% of the 124 patient alleles, and resulting in changes in amino acids 370, 444, and 463.
E, Sidransky, S, Tsuji, B M, Martin, B, Stubblefield, E I, Ginns   +4 more
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Mutational analysis of archaeal histone-DNA interactions

Journal of Molecular Biology, 2000
Site-specific mutagenesis of the hmfB gene cloned from the archaeon Methanothermus fervidus, followed by expression in Escherichia coli, has been used to generate approximately 90 recombinant (r) variants of the archaeal histone HMfB. The abilities of these variants to form stable archaeal nucleosome-containing complexes with linear pBR322 DNA, and ...
D J, Soares, K, Sandman, J N, Reeve
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Somatic DNA Mutation Analysis

2017
Somatic mutations in patient tumor DNA samples can be readily detected based on mass spectrometry. The MassARRAY system is a high-throughput matrix-assisted laser desorption time-of-flight (MALDI) mass spectrometer for detection of nucleic acids. The technique is based on single-nucleotide base extension.
Anthony, O'Grady, Robert, Cummins
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Analysis of Mitochondrial DNA Mutations: Point Mutations

2003
Since the first demonstration that mutations of the mitochondrial genome were associated with human disease, more than 100 pathological mitochondrial DNA (mtDNA) defects have been characterized in patients with a broad spectrum of clinical manifestations (1). Single-point mutations, involving either protein-encoding genes or more commonly RNA (rRNA and
Taylor RW, Andrews RM, Chinnery PF, Turnbull DM   +3 more
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DNA microarray analysis for the detection of mutations in hemophilia A

Journal of Thrombosis and Haemostasis, 2006
Congenital deficiency of factor (F) VIII results in the inherited X-linked bleeding disorder hemophilia A. More than 900 different mutations are reported in the hemophilia A mutation database with the largest number of mutations being single nucleotide substitutions distributed throughout the gene.
E, Berber, J, Leggo, C, Brown, E, Berber, N, Gallo, H, Feilotter, D, Lillicrap   +6 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

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

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
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