scholarly journals Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms

2005 ◽  
Vol 50 (9) ◽  
pp. 490-496 ◽  
Author(s):  
Ling-Ping Lai ◽  
Yi-Ning Su ◽  
Fu-Tien Chiang ◽  
Jyh-Ming Juang ◽  
Yen-Bin Liu ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Long Qt Syndrome ◽  
High Performance ◽  
Nucleotide Polymorphisms ◽  
Novel Mutations ◽  
Long Qt ◽  
Single Nucleotide ◽  
Qt Syndrome ◽  
Sodium And Potassium

Denaturing High-Performance Liquid Chromatography Quickly and Reliably Detects Cardiac Ion Channel Mutations in Long QT Syndrome

2003 ◽  
Vol 7 (3) ◽  
pp. 249-253 ◽  
Author(s):  
Li Ning ◽  
Arthur Moss ◽  
Woject Zareba ◽  
Jennifer Robinson ◽  
Spencer Rosero ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Ion Channel ◽  
Long Qt Syndrome ◽  
High Performance ◽  
Long Qt ◽  
Qt Syndrome

Application of denaturing high-performance liquid chromatography for mapping of single nucleotide polymorphisms in barley (Hordeum vulgare L.)

Genome ◽  
2001 ◽  
Vol 44 (4) ◽  
pp. 523-528 ◽  
Author(s):  
Raja Kota ◽  
Markus Wolf ◽  
Wolfgang Michalek ◽  
Andreas Graner
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Hordeum Vulgare ◽  
Dna Sequence ◽  
High Throughput ◽  
Doubled Haploid ◽  
High Performance ◽  
Nucleotide Polymorphisms ◽  
Hordeum Vulgare L ◽  
Single Nucleotide

Recent advances in DNA sequence analysis and the establishment of high-throughput assays have provided the framework for large-scale discovery and analysis of DNA sequence variation. In this context, single nucleotide polymorphisms (SNPs) are of particular interest. To initiate a systematic approach to develop an SNP map of barley (Hordeum vulgare L.), we have employed denaturing high-performance liquid chromatography (DHPLC) to analyse segregating SNP patterns in a doubled-haploid (DH) mapping population. To this end, SNPs between the parental genotypes were identified using a direct sequencing approach. Once a SNP was established between the parents, the optimal melting temperature of the PCR fragment containing the SNP was predicted for its analysis by DHPLC. Following the detection of the optimal temperature, the DH lines were analysed for the presence of either of the alleles. To test the utility of the analysis, data from previously mapped RFLP markers from which these SNPs were derived were compared. Results from these experiments indicate that DHPLC can be efficiently employed in analysing SNPs on a high-throughput scale.Key words: denaturing high performance liquid chromatography, doubled-haploid lines, restriction fragment length polymorphism, genetic mapping, molecular markers.

Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome

Heart Rhythm ◽  
2014 ◽  
Vol 11 (1) ◽  
pp. 76-82 ◽  
Author(s):  
Nikki Earle ◽  
Dug Yeo Han ◽  
Anna Pilbrow ◽  
Jackie Crawford ◽  
Warren Smith ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Sudden Death ◽  
Long Qt Syndrome ◽  
Nucleotide Polymorphisms ◽  
Cardiac Events ◽  
Long Qt ◽  
Single Nucleotide ◽  
Qt Syndrome

Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes

2006 ◽  
Vol 152 (6) ◽  
pp. 1116-1122 ◽  
Author(s):  
Amy R. Mank-Seymour ◽  
Jodi L. Richmond ◽  
Linda S. Wood ◽  
Jennifer M. Reynolds ◽  
Yu-Ti Fan ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Long Qt Syndrome ◽  
Torsades De Pointes ◽  
Nucleotide Polymorphisms ◽  
Long Qt ◽  
Single Nucleotide ◽  
Qt Syndrome
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