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PCR performance of a thermostable heterodimeric archaeal DNA polymerase.
Front Microbiol
May 2014
Université de Bretagne Occidentale, UMR 6197, Laboratoire de Microbiologie des Environnements Extrêmes Plouzané, France ; Ifremer, UMR 6197, Laboratoire de Microbiologie des Environnements Extrêmes Plouzané, France ; CNRS, UMR 6197, Laboratoire de Microbiologie des Environnements Extrêmes Plouzané, France.
DNA polymerases are versatile tools used in numerous important molecular biological core technologies like the ubiquitous polymerase chain reaction (PCR), cDNA cloning, genome sequencing, and nucleic acid based diagnostics. Taking into account the multiple DNA amplification techniques in use, different DNA polymerases must be optimized for each type of application. One of the current tendencies is to reengineer or to discover new DNA polymerases with increased performance and broadened substrate spectra.
View Article and Find Full Text PDFNovel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
Gene
October 2013
Université Tunis El Manar, Institut Pasteur de Tunis, LR11IPT05, Génomique Biomédicale et Oncogénétique, 1002 Tunis, Tunisia; Université de Monastire, Institut Supérieur de Biotechnologie, Monastir 5000, Tunisia.
Tyrosinemia type II, also designated as oculocutaneous tyrosinemia or Richner-Hanhart syndrome (RHS), is a very rare autosomal recessive disorder. In the present study, we report clinical features and molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in two young patients, both born to consanguineous unions between first-degree cousins. These two unrelated families originated from Northern and Southern Tunisia.
View Article and Find Full Text PDFPhenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Gene
September 2013
Comenius University, Faculty of Natural Sciences, Department of Molecular Biology, Mlynska Dolina, 842 15 Bratislava, Slovak Republic.
We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 135 Slovak PKU families. Mutational screening of the known coding region, including conventional intron splice sites, was performed using high-resolution melting analysis, with subsequent sequencing analysis of the samples showing deviated melting profiles compared to control samples. The PAH gene was also screened for deletions and duplications using MLPA analysis.
View Article and Find Full Text PDFMassively parallel haplotyping on microscopic beads for the high-throughput phase analysis of single molecules.
PLoS One
September 2012
Cell and Tissue Imaging Core, Centre National de la Recherche Scientifique, Institut Curie, Paris, France.
In spite of the many advances in haplotyping methods, it is still very difficult to characterize rare haplotypes in tissues and different environmental samples or to accurately assess the haplotype diversity in large mixtures. This would require a haplotyping method capable of analyzing the phase of single molecules with an unprecedented throughput. Here we describe such a haplotyping method capable of analyzing in parallel hundreds of thousands single molecules in one experiment.
View Article and Find Full Text PDFGenetic analysis of Mycobacterium avium complex strains used for producing purified protein derivatives.
Clin Vaccine Immunol
September 2006
McGill University Health Centre, Montreal, Quebec, Canada.
For over a century, purified protein derivatives (PPD) have been used to detect mycobacterial infections in humans and livestock. Among these, reagents to detect infections by Mycobacterium avium complex organisms have been produced, but the utility of these reagents has not been clearly established due in part to limited biologic and immunologic standardization. Because there is little information about the strains used to produce these reagents (avian PPD, intracellulare PPD, scrofulaceum PPD, and Johnin), we have performed genetic characterizations of strains used to produce these products.
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