نتایج جستجو برای: dhplc
تعداد نتایج: 390 فیلتر نتایج به سال:
With the completion of genome sequencing projects, emphasis in genomics has shifted from analyzing sequences to understanding gene function, and effective reverse genetic strategies are increasingly in demand. Here we report adaptations of the targeting induced local lesions in genomes (TILLING) reverse genetic strategy (McCallum et al., 2000a) to make it suitable for large-scale screening of c...
High-sensitivity and high-throughput mutation detection techniques are useful for screening the homoplasmy or heteroplasmy status of mitochondrial DNA (mtDNA), but might be susceptible to interference from nuclear mitochondrial DNA sequences (NUMTs) co-amplified during polymerase chain reaction (PCR). In this study, we first evaluated the platform of SURVEYOR Nuclease digestion of heteroduplexe...
The aims of this study were to analyze the genetic alterations and expression levels of the Axin1 gene in oral squamous cell carcinoma (OSCC), to evaluate its clinical importance and to clarify whether the Axin1 gene is involved in the pathogenesis of OSCC. Mutation analysis of the Axin1 gene was performed by denaturing high performance liquid chromatography (DHPLC) and DNA sequencing in 44 OSC...
Several techniques have been developed to screen mismatch repair (MMR) genes for deleterious mutations. Until now, two different techniques were required to screen for both point mutations and large rearrangements. For the first time, we propose a new approach, called ‘‘quantitative PCR (qPCR) high-resolution melting (HRM) curve analysis (qPCR-HRM),’’ which combines qPCR and HRM to obtain a rap...
Identification and quantification of phylogenetically defined bacterial populations in the environment are often performed using molecular tools targeting 16S rRNA. Fluorescence in situ hybridization has been used to monitor the expression and processing of rRNA by targeting the 3' tail of precursor 16S rRNA. To expand this approach, we employed reverse transcription of total RNA using primer S...
BACKGROUND AND OBJECTIVES The aim of the study, funded by the Italian Ministry of Health, was to identify the causative mutation in all known patients with hemophilia B in Italy. DESIGN AND METHODS Overall, 269 patients followed by 25 regional centers were considered in the study; after exclusion of the related individuals, 238 unrelated patients were analyzed (153 with severe, 59 with modera...
PURPOSE SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations. METHODS We included patients with SMEI including bo...
PURPOSE Stargardt disease (STGD), characterized by central visual impairment, is the most common juvenile macular dystrophy. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene. Early-onset autosomal recessive retinitis pigmentosa (arRP) is a severe retinal degeneration that presents before the patient is ten years old. It has been associated with mutations in d...
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
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