Document Detail

Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.
MedLine Citation:
PMID:  23890619     Owner:  NLM     Status:  MEDLINE    
The etiology of sudden unexplained nocturnal death syndrome (SUNDS) remains unclear. Previous studies have implicated that SUNDS is probably allelic to cardiac sodium channel diseases such as Brugada syndrome. The variation in cardiac potassium channels is the main genetic cause of inherited long QT syndrome (LQTS), which may manifest as syncope and sudden cardiac death without structural disease. We hypothesized that cardiac potassium channel disease may be responsible for certain Chinese SUNDS cases. Genotyping of 4 main LQTS-susceptibility genes (KCNQ1, KCNH2, KCNE1, and KCNE2) was performed here for the first time in SUNDS victims from the Chinese Han population to address the pathogenic cause of some SUNDS using polymerase chain reaction and direct DNA sequencing. 120 sporadic SUNDS cases were enrolled. Genomic DNA was extracted from blood samples. A total of 2 novel non-synonymous mutations and 3 previously reported arrhythmia susceptibility polymorphisms were identified in KCNQ1, KCNH2, KCNE1, and KCNE2. We concluded that the variants in KCNQ1, KCNH2, KCNE1 and KCNE2 genes may be correlated with the occurrence of part of SUNDS cases in southern China.
Chao Liu; Qianhao Zhao; Terry Su; Shuangbo Tang; Guoli Lv; Hong Liu; Li Quan; Jianding Cheng
Related Documents :
23151249 - Carotid sinus syndrome as the presenting symptom of cystadenolymphoma.
22642969 - Sex and genes, part 1: sexuality and down, prader-willi, and williams syndromes.
25086909 - Klinefelter syndrome with fabry disease - a case of nondisjunction of the x-chromosome ...
22573359 - Adaptations for marine habitat and the effect of triassic and jurassic predator pressur...
22711649 - A mixed-methods investigation of sensory response patterns in barth syndrome: a clinica...
22658229 - Long qt syndrome unmasked in an adult subject presenting with excited delirium.
22736559 - Beer potomania: a case report.
17984499 - Microphthalmos: clinical and ultrasonographic findings.
1543669 - Disease associations and pathogenic role of antineutrophil cytoplasmic autoantibodies i...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-05-15
Journal Detail:
Title:  Forensic science international     Volume:  231     ISSN:  1872-6283     ISO Abbreviation:  Forensic Sci. Int.     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-07-29     Completed Date:  2014-06-05     Revised Date:  2014-07-24    
Medline Journal Info:
Nlm Unique ID:  7902034     Medline TA:  Forensic Sci Int     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  82-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Case-Control Studies
Death, Sudden / etiology*
Ether-A-Go-Go Potassium Channels / genetics*
Ethnic Groups / genetics*
Forensic Genetics
Gene Frequency
KCNQ1 Potassium Channel / genetics*
Middle Aged
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Potassium Channels, Voltage-Gated / genetics*
Sequence Analysis, DNA
Reg. No./Substance:
0/ERG1 potassium channel; 0/Ether-A-Go-Go Potassium Channels; 0/KCNE1 protein, human; 0/KCNE2 protein, human; 0/KCNQ1 Potassium Channel; 0/KCNQ1 protein, human; 0/Potassium Channels, Voltage-Gated

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Analysis of writing inks on paper using direct analysis in real time mass spectrometry.
Next Document:  Graphite furnace atomic absorption elemental analysis of ecstasy tablets.