• Single strand conformation polymorphism analysis of candidate genes for reliable identification of alleles by capillary array electrophoresis. (usda.gov)
  • Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as a conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions. (wikipedia.org)
  • 2001) Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (scirp.org)
  • SNPs were detected via allele-specific oligonucleotide amplification coupled with real-time or electrophoretic product detection, or single strand conformation polymorphism. (oregonstate.edu)
  • Screening was performed using multiplex single-strand conformation analysis, with all potential variants confirmed using genomic sequencing. (duke.edu)
  • METHODS: : The entire CDKN2A coding region and exon 2 of the CDK4 gene of an affected member of each of 52 families from southern Sweden with at least two cases of melanoma in first- or second-degree relatives were screened for mutations by use of polymerase chain reaction-single-strand conformation polymorphism analysis. (lu.se)
  • By optimised primer design it was possible to type the 4 relevant single nucleotide polymorphisms (SNPs) in the prnp simultaneously in one multiplex reaction. (biomedcentral.com)
  • DNA target sequencing identified multiple potential genetic contributors to the disease onset and phenotype, both in terms of coding, damaging-predicted variants, and enriched groups of SNPs in the whole cohort and the two subtypes. (biomedcentral.com)
  • the physical properties of the double strands are almost identical for both alleles. (wikipedia.org)
  • Numerous studies have evaluated the relationship between RNASEL gene polymorphisms (rs486907 G>A and rs627928 T>G) and the risk of cancer. (medscimonit.com)
  • To explore the role of RNASEL gene polymorphisms in prostate cancer, we carried out the present meta-analysis. (medscimonit.com)
  • Subsequent mutation analysis of the factor H gene has revealed two mutations in patients with HUS. (nih.gov)
  • Surprisingly, the sequence analysis of PCR product also revealed the presence of two previously unknown homozygous mutations (TG→CT) at nucleotide positions 554 and 555 in addition to the previously reported heterozygous mutation at position 559. (researchgate.net)
  • Studies related to mutations in the MODY genes have led to a better understanding of the genetic causes of the Beta cell dysfunction as genetic factors plays a great role in this disorder. (scirp.org)
  • p53 mutations in exons 2-11 were assessed in 59 endometrioid carcinomas by polymerase chain reaction-single-strand conformational polymorphism and sequence analysis. (bmj.com)
  • Twelve mutations (20.3%) and nine polymorphisms were identified. (bmj.com)
  • mutations high frequency of IDH1/2 mutations in oligodendrogliomas, astrocytomas and in alteRations in the RB1 pathway in The TET2 gene encodes the -KG- secondary glioblastomas derived thereof low-gRade diffuse gliomas lacking dependent enzyme that catalyses suggests that these tumours share a common genetic alteRations the conversion of 5-methylcytosine to common progenitor cell population. (who.int)
  • An additional 5 patients had rare missense mutations or a single amino acid deletion, the biological significance of which is unknown. (duke.edu)
  • Since a variation of a single nucleotide in a sequence may indicate a significant genetic anomaly, an extremely sensitive method to analyze these mutations is necessary. (nationaldiagnostics.com)
  • DNA microarray analysis for the detection of mutations in hemophilia A. (eahad.org)
  • Analysis of 18 novel mutations in the factor VIII gene. (eahad.org)
  • Furthermore, the analysis of HPV6 E6 and E7 sequences revealed seven/five single-nucleotide mutations, two/four and five/one of which were non-synonymous and synonymous, respectively. (biomedcentral.com)
  • The aim of this study was to detect carriers of CVM in Holstein population using Polymerase Chain Reaction- Primer-introduced restriction analysis and Restriction Fragment Length Polymorphism (PCR-PIRA and RFLP) methods. (researchgate.net)
  • After second- strand cDNA synthesis, T7 RNA polymerase was used to generate aRNA. (genomicglossaries.com)
  • Methods: In our study enzyme amplification (PCR) of the 10 target exons of the said gene with simultaneous mutation detection in them by PCR-SSCP (Polymerase chain reaction-single strand conformational polymorphism) reaction analysis method was attempted by screening of exon 1 - 10 with respect to normal healthy controls without Diabetes Mellitus. (scirp.org)
  • A single forward primer and two species-specific reverse primers were used to produce a polymerase chain reaction (PCR) fragment of 306 bp and 543 bp for S. bovis and S. haematobium, respectively. (imperial.ac.uk)
  • Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) screening of genomic DNA may be used to make prenatal diagnosis. (medscape.com)
  • The PON1 C(-107)T polymorphism was determined by single-stranded conformational polymorphism analysis and the G(-824)A substitution by polymerase chain reaction and restriction enzyme digestion. (johnshopkins.edu)
  • METHODS: These methods included clinical diagnosis, mutation detection, haplotype analysis, and functional expression studies using single-channel recordings of mutant AChR transiently transfected into HEK293 cells. (ox.ac.uk)
  • Direct sequencing covering the region of exon 2 encoding amino acid positions 136, 154 and 171 is the most accurate method, that enables the typing of additional and detection of hitherto unknown polymorphisms. (biomedcentral.com)
  • Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. (eahad.org)
  • During the life cycle of HBV, RT utilizes a single-stranded viral genomic RNA as a template to synthesize a hybrid RNA-DNA duplex, and then converts it to double-stranded DNA (ds-DNA). (biomedcentral.com)
  • However, the codon 206 polymorphism may be related to the interindividual variation in fasting and oral glucose-induced serum insulin levels. (diabetesjournals.org)
  • However, based on a recent analysis of congenital glioblastomas, congenital gliosarcomas may constitute an entity that is genetically and prognostically distinct from adult cases. (touchoncology.com)
  • 2,3,5-13 Ascertaining the frequency of individual congenital tumour types is often made difficult by the inclusion of older children in some analyses (up to 18 months of age in one study). (touchoncology.com)
  • This deletion, which results in a frameshift and a premature stop codon, occurs on the same haplotype background, suggesting that a single mutational event is involved in the four families. (nih.gov)
  • Seven of the nine polymorphisms were codon 72 single nucleotide polymorphisms (SNP) with an Arg/Pro allelotype. (bmj.com)
  • Women were stratified based on p53 genetic alterations (p53 mutation or p53 codon 72 SNP) and whether or not they received adjuvant radiation therapy. (bmj.com)
  • Recent research aimed mainly at a better understanding of the genetic risk factors and modifiers associated with the onset and phenotypic expression of the sporadic disease: Genome-Wide Association Studies (GWAS) of large sCJD cohorts confirmed the significant association with PRNP codon 129, the strongest genetic risk factor [ 10 ]. (biomedcentral.com)
  • Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. (ox.ac.uk)
  • Genetic variability analyses have proven essential to facilitate an improved understanding of the evolution of the papillomavirus. (biomedcentral.com)
  • Interindividual variability in PON1 levels is determined by the Q192R and L55M coding region polymorphisms and by 2 recently described polymorphisms in the promoter of the PON1 gene, C(-107)T and G(-824)A. Objectives: To determine the association of the PON1 promoter polymorphisms with arterial ischemic stroke (AIS) in the young. (johnshopkins.edu)
  • Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics. (oregonstate.edu)
  • The mechanism for conformational conversion to the scrapie isoform is speculated to be an elusive ligand -protein, but, so far, no such compound has been identified. (wikidoc.org)
  • PrP Sc is a conformational isoform of PrP C , but this orientation tends to accumulate in compact, protease -resistant aggregates within neural tissue. (wikidoc.org)
  • Winter, W.E. (2000) Molecular and biochemical analysis of the MODY Syndromes. (scirp.org)
  • The difference in shape between two single-stranded DNA strands with different sequences can cause them to migrate differently through an electrophoresis gel, even though the number of nucleotides is the same, which is, in fact, an application of SSCP. (wikipedia.org)
  • SSCP used to be a way to discover new DNA polymorphisms apart from DNA sequencing but is now being supplanted by sequencing techniques on account of efficiency and accuracy. (wikipedia.org)
  • Estimation of SNP allele frequencies by SSCP analysis of pooled DNA. (wikipedia.org)
  • SequaGel MD is a proprietary formulation, supplied as a 2X stock, designed to resolve sequence-related differences by SSCP (single-strand conformational polymorphism) and heteroduplex analysis. (nationaldiagnostics.com)
  • Two principal methods of conformational analysis have been developed, SSCP Analysis and heteroduplex analysis. (nationaldiagnostics.com)
  • [13] Ligand binding causes a conformational change with unknown effect. (wikidoc.org)
  • Automated fragment length analysis enabled automated allele designation. (biomedcentral.com)
  • Conclusion: These findings suggest that the PON1-107T allele is independently associated with the risk of AIS, in addition to interacting with and potentiating the risk conferred by the Q192R polymorphism. (johnshopkins.edu)
  • Our data suggest that the increased risk for EOAD associated with PSEN1 may result from genetic variations in the regulatory region leading to altered expression levels of the PSEN1 protein. (ox.ac.uk)
  • Therefore, the demand on genotyping capacities of the polymorphisms of the prion protein gene ( prnp ) relevant to presently known disease associations and EU regulations is steadily increasing. (biomedcentral.com)
  • Susceptibility to scrapie is largely controlled by three polymorphic amino acid positions (136, 154, 171) of the ovine prion protein gene ( prnp ) [ 4 ] and reliable genotyping of the corresponding DNA polymorphism is required as a basis for selection decisions. (biomedcentral.com)
  • Because alternative RNA splicing allows different types of mRNA molecules to be created from a single gene, it generates the diversity of protein function and structure that is essential to complex organisms. (genomicglossaries.com)
  • High density arrays of extraordinarily sensitive integrated microring resonators will allow many gene and protein signatures to be simultaneously quantitated from a single patient sample. (nih.gov)
  • These alterations may arise from cancer-specific changes in gene copy number, as well as from other genetic, epigenetic and post-translational changes resulting in higher protein expression, thereby enhancing tumour progression and metastasis. (nature.com)
  • The human protein structure consists of a globular domain with three α-helices and a two-strand antiparallel β-sheet , an NH 2 -terminal tail, and a short COOH -terminal tail. (wikidoc.org)
  • This RD-PCR proved highly sensitive, detecting a single larval stage and as little as 0.78 ng of genomic DNA (gDNA) from an adult schistosome, providing a cost-effective, rapid and robust molecular tool for high-throughput screening of S. haematobium and S. bovis populations. (imperial.ac.uk)
  • The selection pressures acting on the E6 / E7 genes were estimated by Phylogenetic Analyses by Maximum Likelihood version 4.8 software. (biomedcentral.com)
  • The emerging picture of BRCA1 population genetics involves complex interactions of family history, age, and genetic ancestry, all of which should be taken into account when considering testing or interpreting results. (duke.edu)
  • Phylogenetic trees were constructed by Maximum-likelihood and the Kimura 2-parameters methods by Molecular Evolutionary Genetics Analysis version 6.0. (biomedcentral.com)
  • The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. (biomedcentral.com)
  • The results add to the understanding of the molecular features associated with sporadic CJD and its most common subtypes, revealing strain-specific genetic signatures and functional similarities between VV2 and Parkinson's disease and providing preliminary evidence of RNA editing modifications in human sCJD. (biomedcentral.com)
  • This work investigates the molecular basis of the phenotypic heterogeneity of prion diseases through a multi-omics analysis of the two most common sCJD subtypes: MM1 and VV2. (biomedcentral.com)
  • It provides an efficient and inexpensive diagnostic mutation analysis that will improve the quality of prnp genotyping compared with other low-cost methods. (biomedcentral.com)
  • Perform further specific diagnostic testing, including DNA mutation analysis, to confirm the underlying diagnosis (see Other Tests). (medscape.com)
  • 2002. Sequencing of the rat beta-catenin gene (Ctnnb1) and mutational analysis of liver tumors induced by 2-amino-3-methylimidazo[4,5-f]quinoline. . (oregonstate.edu)
  • 2003. Mutational analysis of Ctnnb1 and Apc in tumors from rats given 1,2-dimethylhydrazine or 2-amino-3-methylimidazo[4,5-f]quinoline: mutational 'hotspots' and the relative expression of beta-catenin and c-jun. . (oregonstate.edu)
  • Our results show that one out of 60 bulls tested exhibited polymorphism (G→T) at position 559 in exon 4 of SLC35A3 gene. (researchgate.net)
  • We now present a genetic analysis of 54 unrelated Spanish SMA families that has revealed a 4-basepair (bp) deletion (AGAG) in exon 3 of SMN in four unrelated patients. (nih.gov)
  • It can be implemented by most molecular genetic laboratories using standard equipment. (biomedcentral.com)
  • Despite their bi-phasic histology, genetic analyses of adult gliosarcoma cases suggest not only a molecular profile similar to glioblastoma, but also a monoclonal histogenesis for the glial and sarcomatous elements. (touchoncology.com)
  • Genetic clues to the molecular basis of tobacco addiction and progress towards personalized therapy. (ox.ac.uk)
  • Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation. (eahad.org)
  • Single-strand confirmation polymorphism and next-generation sequencing analysis revealed differences between the serum and cerebrospinal fluid-derived viral sequences, which is compatible with the presence of a separate HPgV compartment in the central nervous system. (cdc.gov)
  • The phylogenetic analyses of the E6 and E7 sequences indicated that they belonged to sub-lineage A1 and sub-lineage B1, whereas the selective pressure analyses showed that only the E7 mutation sites 4R, 34E, and 52F were positive selection. (biomedcentral.com)
  • Analysis of the mutant and wild-type-280 variants using luciferase reporter gene expression in transiently transfected neuroblastoma cells showed a 30% decrease in transcriptional activity for the mutant-280G PSEN1 promoter variant compared with the wild-type variant-280C. (ox.ac.uk)
  • The present study aimed to characterize the genetic diversity among HPV6 in Southwest China, and to investigate the origin of, selective pressure experienced by, and impact of the resultantly identified genetic variants on the HPV6 secondary structure. (biomedcentral.com)
  • Stratified analyses showed that similar results were obtained in white populations. (medscimonit.com)
  • The results of these analyses revealed that both the HPV6 E6 and E7 were highly conserved within the analyzed patient samples, and comprised only 3 types of variant sequence, respectively. (biomedcentral.com)
  • NMR shows copper binding results in a conformational change at the N-terminus . (wikidoc.org)
  • In this study we combined the amplification refractory mutation system (ARMS) with standard fluorescent based fragment length analyses method to develop a prnp genotyping method (PRNP ARMS). (biomedcentral.com)
  • they show an age distribution and genetic profile similar to secondary glioblastomas and are probably misclassified. (who.int)
  • This critical review article explores the potential reasons why LC × LC is not the dominant technique used in environmental analysis as compared to GC × GC, while simultaneously highlighting the quite unique role of LC × LC for the target and untargeted analysis of complex environmental matrices. (bvsalud.org)
  • Hattersley, A.T. (1998) Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity. (scirp.org)
  • Northern hybridization analysis indicates highest levels of expression in liver and pancreas ( 2 ). (diabetesjournals.org)
  • p53 genetic alterations are associated with advanced stage and aggressive tumors in a variety of human malignancies. (bmj.com)
  • The aim of this study was to examine p53 for genetic alterations and to evaluate the association of these alterations with clinical outcome and response to adjuvant radiotherapy in endometrioid endometrial carcinomas. (bmj.com)
  • Women with p53 genetic alterations who did not receive adjuvant radiotherapy had the lowest survival rate ( P = 0.0005). (bmj.com)
  • Treated women with p53 genetic alterations and untreated women with no p53 alteration had similar rates of survival. (bmj.com)
  • In multivariate analyses, the group of women with p53 genetic alterations who did not receive adjuvant radiation therapy had a 5.9-fold increased risk of death (95% confidence interval: 1.5-22.7) compared to women whose tumors lacked p53 alterations and did not receive adjuvant radiation therapy. (bmj.com)
  • This proposal describes a revolutionary biological analysis technology which has the potential to profoundly change the face of clinical medicine and beyond. (nih.gov)
  • We recently showed genetic association in a population-based study of EOAD, pointing to the 5' regulatory region of PSEN1. (ox.ac.uk)
  • Although the notion that malaria has helped shape the human genome is well- accepted, the lack of a nucleus in human erythrocytes has hindered our ability to study genetic interactions between these unusual host cells and P. falciparum parasites. (stanford.edu)
  • Dr Heidi Mattock and use genetic data to identify the etiology of human canceRs. (who.int)
  • Population genetic studies dating back to the mid-20th century first proposed that erythrocytes (red blood cells), the host cell for P. falciparum, have been under natural selection due to malaria. (stanford.edu)
  • This unusual case raises the possibility that genetic defects of the AChR might be a factor in the etiology of autoimmune MG. (ox.ac.uk)
  • CCK-8 assay, flow cytometric analysis, western blotting, orthotopic GBM model as well as transwell assay were performed to investigate the biological role of CASP5. (cancerindex.org)
  • Genetic analysis confirmed association of two polymorphisms with increased risk for EOAD. (ox.ac.uk)
  • We report the effect of rs627928 on the development of prostate cancer and confirm that rs486907 is not involved in the risk of prostate cancer in the current meta-analysis. (medscimonit.com)
  • As a postdoc in Manoj Duraisingh's lab at Harvard School of Public Health she performed a genetic screen to identify critical host factors for Plasmodium falciparum malaria using red blood cells derived from hematopoietic stem cells. (stanford.edu)
  • If uninformative deletion/duplication genetic tests have resulted, direct sequencing of the dystrophin gene is a viable option. (medscape.com)