Development of a Long QT-Syndrome mutation detection method

Nastainczyk, M.; Lessig, Rüdiger; Husser-Bollmann, Daniela; Dreßler, Jan; Edelmann, Jeanett

doi:10.1016/j.fsigss.2011.09.056

Cited by 1 publication

(2 citation statements)

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“…or established with limited number of mutations (Braganholi, D. F. et al.). Our approach is capable of detecting 45 SNPs, thus improving the detection efficiency and reducing screening costs .…”

Section: Discussionmentioning

confidence: 99%

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A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population

Wang

Wang²,

et al. 2018

Electrophoresis

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Sudden cardiac death (SCD) occurs frequently in forensic practice and results in no visible pathological changes that can be detected in an autopsy. In recent years, the genetic background has been emphasized when examining SCD cases. The aim of this study is to establish a feasible system to detect SCD-related genes for forensic DNA laboratories. Forty-five reported SCD-associated SNPs from sodium voltage-gated channel alpha subunit 5 (SCN5A) were considered in our experiment. We established a SNaPshot assay for the typing of 45 SNPs using multiplex PCR and the minisequencing technique. Two multiplex PCRs were performed and optimized to cover 14 and 16 DNA fragments. The SCD victims came from the Chinese Han population residing in Shanxi and Chongqing provinces and were examined and compared with a non-SCD group and with normal healthy individuals. A missense mutation at rs1805124 (H558R) was detected in the Chinese Han population in this study. A SNaPshot assay can be performed in any forensic DNA laboratory and would be capable of meeting the increasing demand for SCD detection. This method would also be beneficial for screening at-risk in family members of SCD victims.

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Section: Discussionmentioning

confidence: 99%

“…Previous studies involving SNaPshot analysis were based on LQTS (Nastainczyk, M. et al) or established with limited number of mutations (Braganholi, D. F. et al). Our approach is capable of detecting 45 SNPs, thus improving the detection efficiency and reducing screening costs [41,42].…”

Section: Mutations and Their Significance In The Chinese Populationmentioning

confidence: 99%

A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population

Wang

Wang²,

et al. 2018

Electrophoresis

View full text Add to dashboard Cite

show abstract

Development of a Long QT-Syndrome mutation detection method

Cited by 1 publication

References 6 publications

A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population

A SNaPshot assay for detection of 45 mutations in the SCN5A gene in the Chinese Han Population

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