W14.383 Validation of single strand conformation polymorphism (SSCP) analysis in the detection of mutations in genes such as that coding for the LDL receptor

2004 ◽  
Vol 5 (1) ◽  
pp. 88-89
Author(s):  
P NISSEN
Keyword(s):  
Ldl Receptor ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Sscp Analysis ◽  
Detection Of Mutations ◽  
Conformation Polymorphism

W14.383 Validation of single strand conformation polymorphism (SSCP) analysis in the detection of mutations in genes such as that coding for the LDL receptor

2004 ◽  
Vol 5 (1) ◽  
pp. 88-89
Author(s):  
P. Nissen ◽  
P. Andersen ◽  
L. Jensen ◽  
L. Larsen ◽  
A. Stenderup ◽  
...  
Keyword(s):  
Ldl Receptor ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Sscp Analysis ◽  
Detection Of Mutations ◽  
Conformation Polymorphism

scholarly journals Optimization of single-strand conformation polymorphism analysis in the presence of polyethylene glycol

1997 ◽  
Vol 43 (1) ◽  
pp. 30-33 ◽  
Author(s):  
Arseni Markoff ◽  
Alex Savov ◽  
Vladimir Vladimirov ◽  
Nadia Bogdanova ◽  
Ivo Kremensky ◽  
...  
Keyword(s):  
Polyethylene Glycol ◽  
Polyacrylamide Gel Electrophoresis ◽  
Gc Content ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Sscp Analysis ◽  
Polymorphism Analysis ◽  
Conformation Polymorphism Analysis ◽  
Detection Of Mutations ◽  
Conformation Polymorphism

Abstract We report optimization of single-strand conformation polymorphism (SSCP) analysis in the presence of polyethylene glycol. The protocol developed separates single-strand conformers in a much shorter time (1–3 h) than conventional SSCP protocols and broadens the applicability of SSCP analysis from 150 to as much as 500 bp of DNA by different percentages of GC content present. We conclude that addition of polyethylene glycol helps improve the differential separation of conformers and, in combination with high-resolution polyacrylamide gel electrophoresis, offers an alternative to previous SSCP analysis protocols. This protocol should be very useful for clinical applications in routine detection of mutations as well as for research purposes.

scholarly journals High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing

1996 ◽  
Vol 42 (8) ◽  
pp. 1140-1146 ◽  
Author(s):  
H K Jensen ◽  
L G Jensen ◽  
P S Hansen ◽  
O Faergeman ◽  
N Gregersen
Keyword(s):  
Dna Sequencing ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Sscp Analysis ◽  
Oligonucleotide Primer ◽  
In Vitro Mutagenesis ◽  
Sequence Variations ◽  
Conformation Polymorphism

Abstract We designed oligonucleotide primer pairs to amplify the promoter region, the translated exon sequences, and the flanking intron sequences of all 18 exons of the LDL receptor gene to compare the ability of the PCR single-strand conformation polymorphism (PCR-SSCP) method with semiautomated solid-phase genomic DNA sequencing to detect sequence variations. In 20 apparently unrelated Danish patients with a clinical diagnosis of heterozygous familial hypercholesterolemia (FH), we identified 13 different mutations in the LDL receptor gene: two silent (C331C, N494 N); five missense (W66G, E119K, T383P, W556S, T7051); one nonsense (W23X); three splice-site (313 + 1G-->A, 1061-8T-->C, 1846-1G-->A); and two frameshift (335del10, 1650delG) mutations. Four of these mutations, N494 N, T383P, 1061-8T-->C, and W556S, have not been reported earlier. The pathogenicity of the T383P, 1061-8T-->C, and W556S mutations remains to be established by in vitro mutagenesis and transfection studies. One patient had three mutations (335del10, 1061-8T-->C, and T705I) on the same allele. Further, nine well-known polymorphisms were detectable with this methodological setup. Direct DNA sequencing of the PCR products used for the SSCP analysis did not reveal any sequence variations not detected by the PCR-SSCP method. In two patients we did not detect any mutation by either method. We conclude that the PCR-SSCP analysis, performed as described here, is as sensitive and efficient as DNA sequencing in the ability to identify the sequence variations in the LDL receptor gene of the patients with heterozygous FH of this study.

Detection of Mutations by Single-Strand Conformation Polymorphism (SSCP) Analysis and SSCP-Hybrid Methods

1997 ◽  
pp. 7.4.1-7.4.23 ◽  
Author(s):  
William Warren ◽  
Eivind Hovig ◽  
Birgitte Smith-Sørensen ◽  
Anne-Lise Børresen ◽  
Frank K. Fujimura ◽  
...  
Keyword(s):  
Hybrid Methods ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Sscp Analysis ◽  
Detection Of Mutations ◽  
Conformation Polymorphism

Single-Strand Conformation Polymorphism (SSCP) Analysis

1999 ◽  
pp. 82-85
Author(s):  
Feng Qian ◽  
Gregory G. Germino
Keyword(s):  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Sscp Analysis ◽  
Conformation Polymorphism

Single-strand conformation polymorphism (SSCP) analysis ofListeria monocytogenes iapgene as tool to detect different serogroups

1997 ◽  
Vol 11 (6) ◽  
pp. 459-462 ◽  
Author(s):  
Marisa Manzano ◽  
Luca Cocolin ◽  
Corrado Pipan ◽  
Elisabetta Falasca ◽  
Guiseppe A Botta ◽  
...  
Keyword(s):  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Sscp Analysis ◽  
Oflisteria Monocytogenes ◽  
Conformation Polymorphism

Detection of mutations in the p53 gene in human head and neck carinomas by single strand conformation polymorphism analysis

1992 ◽  
Vol 67 (2-3) ◽  
pp. 167-174 ◽  
Author(s):  
Yu-Sun Chang ◽  
Yu-Jung Lin ◽  
Chi-Neu Tsai ◽  
Chih-Hung Shu ◽  
Min-Shiu Tsai ◽  
...  
Keyword(s):  
Head And Neck ◽  
P53 Gene ◽  
Human Head ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Polymorphism Analysis ◽  
Conformation Polymorphism Analysis ◽  
Detection Of Mutations ◽  
Conformation Polymorphism
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