• These species have been identified, either togeth- strand conformational polymorphism (SSCP) banding er or separately, in areas where RMSF is endemic. (cdc.gov)
  • 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)
  • 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)
  • These had all been previously screened for the presence of p53 mutations in exons 2 and 4-11 by single strand conformational polymorphism (SSCP) analysis and DNA sequencing as previously described. (bmj.com)
  • Prostate carcinoma was microdissected, and polymerase chain reaction amplification of a region containing the (G)8 microsatellite was performed on DNA from peripheral blood leukocytes and tumors, followed by single strand conformational polymorphism (SSCP) analysis and direct DNA sequencing. (canjurol.com)
  • Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) screening of genomic DNA may be used to make prenatal diagnosis. (medscape.com)
  • In search of a quick and reliable HPG classification, three different molecular approaches were tested: the restriction fragment length polymorphism (RFLP) method applied to mtDNA control region (CR), the single strand conformational polymorphism (SSCP) method applied to NADH dehydrogenase subunit 2 (MT-ND2) and to NADH dehydrogenase subunit 4 (MT-ND4) regions. (metu.edu.tr)
  • Single-strand conformation polymorphism analysis was used to search for mutations in the coding segments of the MYL2 gene, and the abnormal products were sequenced. (nih.gov)
  • One hundred sixteen consecutive ovarian cancer patients seen for routine clinical care were examined for BRCA1, BRCA2, hMSH2, and hMLH1 gene mutations with use of the polymerase chain reaction, single-strand conformation polymorphism analysis, and direct gene sequencing. (nih.gov)
  • Single strand conformation polymorphism analysis of candidate genes for reliable identification of alleles by capillary array electrophoresis. (usda.gov)
  • 2001) Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (scirp.org)
  • 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)
  • Among 116 unselected ovarian cancer patients we identified a total of 13 germline mutations in 12 patients: 10 in BRCA1, one each in hMSH2 and hMLH1, and a single BRCA2 mutation, which occurred in a patient also carrying a BRCA1 mutation. (nih.gov)
  • This technique is when genetic microscopes are used to look down to a single cell it is used to look at recombination also look for mutations in genes it has been used to help identify many deleterious alleles in genes. (wikipedia.org)
  • Another germline deletion ( TGFBR1*6A ) and somatic mutations in the TGFBR1 were also analyzed by PCR and single-strand conformational polymorphism. (aacrjournals.org)
  • 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)
  • 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)
  • Thus, this study reports the results of a mutation analysis of the coding region of the SLC2A10 gene and the identification of six novel single nucleotide polymorphisms. (diabetesjournals.org)
  • 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)
  • Seven of the nine polymorphisms were codon 72 single nucleotide polymorphisms (SNP) with an Arg/Pro allelotype. (bmj.com)
  • In this study, the authors performed mutation analysis of these three genes in 41 sporadic HSCR patients without any family history by using single-strand conformational polymorphism or denaturing gradient gel electrophoresis methods. (drugbank.com)
  • Genetic analysis confirmed association of two polymorphisms with increased risk for EOAD. (ox.ac.uk)
  • Any altered conformation due to a single base change in the sequence can cause single-stranded DNA to migrate differently under nondenaturing electrophoresis conditions, so a wild-type and mutant DNA samples display different band patterns. (wikipedia.org)
  • There are 4 steps to this method: polymerase chain reaction (PCR) amplification of DNA sequence of interest denaturation of double-stranded PCR products cooling of the denatured DNA (single-stranded) to maximize self-annealing detection of mobility difference of the single-stranded DNAs by electrophoresis under non-denaturing conditions. (wikipedia.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)
  • 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)
  • Single-strand conformational polymorphism analysis: basic principles and routine practice. (elsevierpure.com)
  • Dive into the research topics of 'Single-strand conformational polymorphism analysis: basic principles and routine practice. (elsevierpure.com)
  • Screening was performed using multiplex single-strand conformation analysis, with all potential variants confirmed using genomic sequencing. (duke.edu)
  • To explore the role of RNASEL gene polymorphisms in prostate cancer, we carried out the present meta-analysis. (medscimonit.com)
  • Single-strand conformational polymorphism analysis of a PCR-generated fragment from the 5' flanking region of the IL-6 gene (-550 to +61) indicated the existence of polymorphisms. (ucl.ac.uk)
  • RFLP analysis of the -174 polymorphism in 59 Caucasian S-JCA patients demonstrated that they had a lower C allele frequency than a group of healthy Caucasians (n=72) (0.35 vs 0.53). (ucl.ac.uk)
  • Functional polymorphisms in CYTOCHROME P450 monooxygenases that metabolize nicotine have now been defined and it should soon be possible to identify fast nicotine metabolizers by DNA analysis. (ox.ac.uk)
  • Single strand conformational polymorphism analysis, and the DNA sequence of the PCR product, shows differences between M. kansasii strains, supporting the suggestion that M. kansasii is not a homogeneous species. (aber.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)
  • CONCLUSIONS: : Our findings confirm that the majority of CDKN2A-associated melanoma families in Sweden are due to a single founder mutation. (lu.se)
  • However, the codon 206 polymorphism may be related to the interindividual variation in fasting and oral glucose-induced serum insulin levels. (diabetesjournals.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 technique uses the method based on the fact that single-stranded DNA has a defined conformation. (wikipedia.org)
  • This thesis discusses research conducted to examine the hypothesis that this is due to polymorphisms in the region of the IL-6 gene controlling its expression. (ucl.ac.uk)
  • 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)
  • 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)
  • No significant difference between groups was found regarding the G(-824)A polymorphism. (johnshopkins.edu)
  • Numerous studies have evaluated the relationship between RNASEL gene polymorphisms (rs486907 G>A and rs627928 T>G) and the risk of cancer. (medscimonit.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)
  • 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)
  • Such magnetic relaxation dispersion (MRD1) structural polymorphism of quadruplexes ( 2, 5, 6 ), but little measurements have been used to study ion binding (via 23Na is known about the energetics and kinetics of ion binding. (lu.se)
  • There are 4 steps to this method: polymerase chain reaction (PCR) amplification of DNA sequence of interest denaturation of double-stranded PCR products cooling of the denatured DNA (single-stranded) to maximize self-annealing detection of mobility difference of the single-stranded DNAs by electrophoresis under non-denaturing conditions. (wikipedia.org)
  • Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease. (cdc.gov)
  • Mutations were detected throughout the gene, and only one was detected in more than a single family. (nih.gov)
  • Two silent polymorphisms were found and confirmed by sequencing, but no missense or nonsense mutations were detected. (ox.ac.uk)
  • [6] Also, overexpression of progerin is correlated with an increase in non-homologous end joining relative to homologous recombination among those DNA double-strand breaks that are repaired . (wikipedia.org)
  • RAG1 and RAG2 are expressed exclusively in lymphocytes and mediate the creation of double-strand DNA breaks at the sites of recombination and in signal sequences during T- and B-cell receptor gene rearrangement [10]. (jscimedcentral.com)
  • Recombination is initiated by the lymphoid-specific RAG1 and RAG2 recombinase, which introduces double-strand DNA breaks at RSSs flanking variable (V), diversity (D), and junction (J) gene segments spread along the Immunoglobulin and TCR loci [17-20]. (jscimedcentral.com)
  • Oto, M, Suda, W & Shinoyama, H 2006, ' 16S rRNA gene-based analysis of microbial community by whole-genome amplification and minigel-single-strand conformation polymorphism technique ', Journal of Bioscience and Bioengineering , vol. 102, no. 5, pp. 482-484. (elsevierpure.com)
  • Analysis by single-stranded conformational polymorphism-PCR of venom-gland mRNA species of T. flavoviridis from three islands, with reference to five DNA species each encoding different PLA 2 isoenzymes from Tokunoshima T. flavoviridis venom gland, also suggested that BPI and BPII mRNA species are not expressed in Okinawa T. flavoviridis venom gland. (elsevierpure.com)
  • In sequence analysis of the two segments involving polymorphism between BPI and BPII genes, which are located in first exon and third exon, respectively, only one base was detected at the polymorphic positions for pseudogene in Okinawa T. flavoviridis genome. (elsevierpure.com)
  • We have previously shown that human virus genomes are enriched in G-rich sequences that fold in four-stranded nucleic acid secondary structures, the G-quadruplexes.Here, by extensive bioinformatics analysis on all available genomes, we showed that human viruses are enriched in highly conserved multiple A (and T or U) tracts, with such an array that they could in principle form quadruplex structures. (frontiersin.org)
  • We then examined the functional relevance of the polymorphisms using enzyme-linked immunosorbent assays (ELISAs), in vitro lymphocyte proliferation assay, and cytotoxic assay. (researchgate.net)
  • After testing the respective reference strains we found, that Mycoplasma iowae, M. meleagridis, and M. synoviae could be detected by PCR with this primer pair, and distinction could be made among them by restriction fragment length polymorphism (RFLP) assay with two restriction enzymes (BamUl, and Rsal). (huveta.hu)
  • Contrary to human host cells, viruses display a diverse array of nucleic acid types, which include DNA or RNA in single-stranded or double-stranded conformations. (frontiersin.org)
  • Conformational transitions in human translin enable nucleic acid binding. (nih.gov)
  • Intra- and interchromosomal contact mapping reveals the Igh locus has extensive conformational heterogeneity and interacts with B-lineage genes. (babraham.ac.uk)
  • Polymorphism in the adenomatous polyposis coli (APC) gene was analyzed in 33 families suspected of familial adenomatous polypo. (nel.edu)
  • From a bio-physical point of view, intrinsic electrocatalytic signal of proteins sensitive to conformational changes could be useful in discrimination of mutant proteins (e. g. p53), native and aggregated forms (α-synuclein in Parkinson's disease) or for studies of protein interactions with low molecular‑ weight ligands and DNA. (prelekara.sk)
  • Recombinase activating genes RAG1 and RAG2 (OMIM 179615,179616 respectively) are expressed exclusively in lymphocytes and mediate the creation of double-strand. (jscimedcentral.com)
  • Axial stacking of planar peptides by strand-strand docking and β-arcade formation drive protofibril formation, usually followed by the helical winding of multiple protofibrils into a remarkably stable helical superstructure. (nature.com)
  • In addition to silent changes, polymorphisms, and intronic variants in a number of the cell lines, we detected frameshift single-base deletions in repeat regions of exon 3 (codons 120 and 126) causing premature truncations at codon 216 in four replication-error-positive (RER+) cell lines (LS174T, HCT116, GP2d, and GP5d) derived from 3 patients. (ox.ac.uk)
  • This leaves the intact premature Lamin A bonded to the methylated carboxyl farnesyl group creating the defective protein Progerin, rather than the desired protein matured Lamin A. Approximately 90% of all Hutchinson-Gilford progeria syndrome cases are heterozygous for this deleterious single nucleotide polymorphism within exon 11 of the LMNA gene causing the post-translational modifications to produce Progerin. (wikipedia.org)
  • Deconvolution of single Igh locus conformations using polymer simulations identifies thousands of different structures. (babraham.ac.uk)
  • Moreover, these data also suggest that the binding subunit does not dissociate during the conformational changes that expose the fusion peptide, but remains as a critical part of the complex that catalyzes fusion pore formation. (biomedcentral.com)
  • Conformational changes induced in the human protein translin and in the single-stranded oligodeoxynucleotides d(GT)(12) and d(TTAGGG)(5) upon binding of these oligodeoxynucleotides by translin. (nih.gov)
  • [5] Progerin increases the frequency of unrepaired double-strand breaks in DNA following exposure to ionizing radiation . (wikipedia.org)
  • These findings suggest that the normal untruncated nuclear lamina has an important role in the proper repair of DNA double-strand breaks . (wikipedia.org)
  • However, resistance to steroid therapy is a frequent phenomenon, and early studies showed that patients who relapse after single-agent induction of an initial remission are generally refractory to further steroid therapy (1, 2, 3, 4) . (aacrjournals.org)
  • We genotyped polymorphisms in CTLA-4 (-318T/C, CT60 G/A, +49G/A, -658T/C, and -1661G/A) and calculated odds ratios for the genotype and allele distributions between patients and controls, in order to assess the association between CTLA-4 genotypes and cancer risk. (researchgate.net)
  • 3. Maratni NP, Saraswati MR, Dewi NN, Yasa IW, Eka Widyadharma IP, Putra IB, Suastika K. Association of Apolipoprotein E Gene Polymorphism with Lipid Profile and Ischemic Stroke Risk in Type 2 Diabetes Mellitus Patients. (ac.ir)
  • GGT, p.Gly608Gly) is the single point nucleotide polymorphism that occurs in most patients with progeria. (wikipedia.org)
  • In view of enormous polymorphisms in mtDNA among mice and dramatic differences in nuclear genomes of these seven strains, our findings were surprising. (silverchair.com)
  • The defective gene in HGPS Progerin has effects on accelerated aging effects due to the conformational stress Progerin has on the cell membrane . (wikipedia.org)
  • Polymorphisms in the adenomatous polyposis coli gene in Slovak families suspected of FAP. (nel.edu)
  • Wachsmannova-Matelova L, Stevurkova V, Adamcikova Z, Holec V, Zajac V. Polymorphisms in the adenomatous polyposis coli gene in Slovak families suspected of FAP. (nel.edu)
  • The technique uses the method based on the fact that single-stranded DNA has a defined conformation. (wikipedia.org)
  • Any altered conformation due to a single base change in the sequence can cause single-stranded DNA to migrate differently under nondenaturing electrophoresis conditions, so a wild-type and mutant DNA samples display different band patterns. (wikipedia.org)
  • Most of the identified A-tracts are in the coding strand, both at the DNA and RNA levels, suggesting their possible relevance during viral translation. (frontiersin.org)
  • Approximately 35 cases of RMSF are reported annual- indicated that all infections represented a single rickettsial taxon, Rickettsia montanensis . (cdc.gov)