Results 191 to 200 of about 20,043 (225)
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Single‐Strand Conformation Polymorphism Analysis Using Capillary Electrophoresis
Current Protocols in Human Genetics, 2003AbstractSingle‐strand conformation polymorphism (SSCP) is one of the most frequently used mutation detection methods. This unit describes a method of SSCP with automated analysis by capillary electrophoresis in order to increase the capacity and throughput. A protocol is provided for sample preparation.
Lars Allan, Larsen +3 more
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Detection of Mutations by Single-strand Conformational Polymorphism
Cold Spring Harbor Protocols, 2006MATERIALS 10x Amplification buffer Include 0.01% (w/v) gelatin in the buffer. 10x TBE electrophoresis buffer Use TBE at a working strength of 1x (89 mM Tris-borate, 2 mM EDTA) for polyacrylamide gel electrophoresis. 6x Gel-loading buffer I Formamide loading buffer Human genomic DNA to be screened for point mutations Dissolve the DNA at 10 μg/ml in TE ...
Joseph, Sambrook, David W, Russell
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Single-strand conformation polymorphism analysis in theFMR1
American Journal of Medical Genetics, 1999The fragile X syndrome is due to an expansion of the CGG trinucleotide repeat in the FMR1 gene and hypermethylation of its 5' upstream CpG island in about 95% of the cases. The remaining 5% of cases correspond to other molecular alterations in FMR1 gene such as partial or complete deletions, or point mutations within the coding sequence. We selected 31
S. Castellv�-Bel +8 more
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Journal of Biochemistry, 1996
The cause of separation in gel electrophoresis between highly homologous ss (single-stranded) DNAs as observed in SSCP (single-strand conformation polymorphism) was pursued. Advancing our previous explanation [J. Biochem. 99, 663-671 (1986)], the mobility difference of ssDNAs was correlated to differences in their dynamic conformation (not to ...
Y, Nakabayashi, K, Nishigaki
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The cause of separation in gel electrophoresis between highly homologous ss (single-stranded) DNAs as observed in SSCP (single-strand conformation polymorphism) was pursued. Advancing our previous explanation [J. Biochem. 99, 663-671 (1986)], the mobility difference of ssDNAs was correlated to differences in their dynamic conformation (not to ...
Y, Nakabayashi, K, Nishigaki
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Single-strand conformation polymorphism analysis
1998Abstract SSCP (single-strand conformation polymorphism) is widely used for mutation detection because of its simplicity and versatility. In this method, a segment to be searched for a mutation is amplified by PCR from genomic DNA or cDNA, denatured, and separated by electrophoresis in media having sieving properties without denaturant (1)
Kenshi Hayashi +3 more
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ABO genotyping by single strand conformation polymorphism – using CE
ELECTROPHORESIS, 2009AbstractThis study describes a novel method of ABO genotyping using amplicons generated by PCR‐SSCP and separated by CE. We describe four amplicons with sizes of 112, 121, 123 and 160 bp based on SSCP analysis. These amplicons are amplified from exons 6 and 7 and include polymorphic sites of cDNA 261, 297, 467, 526, 646, 657, 681, 703, 1061 and 1096 ...
Lee, J.C.I. +5 more
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Highly Sensitive Nonradioactive Single-strand Conformational Polymorphism
Diagnostic Molecular Pathology, 1996Mutation detection by single-strand conformational polymorphism (SSCP) analysis is more difficult when the variant is limited to a small proportion of target sequences in a sample. Use of SYBR-Green II, a sensitive, nonradioactive, minimally hazardous nucleic acid stain, permits detection of Ki-ras mutants present as less than 0.5% of the target ...
J R, Emanuel +4 more
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Single-Strand Conformation Polymorphism (SSCP) Analysis
1999The detection of DNA sequence variation is important for the identification of disease-causing mutations, as well as for the detection of clinically silent DNA polymorphisms. Among the techniques capable of detecting a single base change, the single-strand conformation polymorphism (SSCP) analysis is most commonly used due to its simplicity and ...
Feng Qian, Gregory G. Germino
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Cathepsin D: Screening for new polymorphisms using single-strand conformation polymorphism analysis
International Journal of Molecular Medicine, 2002Cathepsin D (CTSD) is a lysosomal protease involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer's disease (AD). Previous findings revealed a significant association between the T allele of the 224 C/T (A58V) polymorphism in exon 2 of the CTSD gene and late onset AD.
Majores, Micael +8 more
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Screening Hypermethylated Regions by Methylation-Sensitive Single-Strand Conformational Polymorphism
Analytical Biochemistry, 2000DNA methylation is an important epigenetic modification that alters transcription in those genes containing CpG islands. In this report we demonstrate that the familiar technique single-strand conformation polymorphism (SSCP) can be easily applied to bisulfite-treated DNA to detect methylation differences over large ( approximately 250 bp) CG-enriched ...
H, Kinoshita +3 more
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