title: [KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].
abstract: OBJECTIVE
  To investigate KCNQ1, KCNH2, KCNE1 and KCNE2 gene variants in the cases of sudden manhood death syndrome (SMDS).
  
  
  METHODS
  One hundred and sixteen sporadic cases of SMDS and one hundred and twenty-five healthy controlled samples were enrolled. Genomic DNA was extracted from blood samples. Gene variants of KCNQ1, KCNH2, KCNE1 and KCNE2 were screened by direct sequencing.
  
  
  RESULTS
  A total of 14 mutations and 14 SNP were detected. Two non-synonymous mutations of them were newfound. There was no non-synonymous mutation found in the control group.
  
  
  CONCLUSIONS
  There are KCNQ1, KCNH2, KCNE1 and KCNE2 gene variants found in Chinese SMDS cases. KCNQ1, KCNH2, KCNE1 and KCNE2 gene mutation may correlate partly with the occurrence of some cases of the SMDS in China.
authors.affiliation: Department of Forensic Pathology, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, China. spongezhao@163.com
authors.forename: Qian-hao
authors.initials: QH
authors.lastname: Zhao
authors.forename: Chao
authors.initials: C
authors.lastname: Liu
authors.forename: Long-wu
authors.initials: LW
authors.lastname: Lu
authors.forename: Guo-li
authors.initials: GL
authors.lastname: Lü
authors.forename: Hong
authors.initials: H
authors.lastname: Liu
authors.forename: Shuang-bo
authors.initials: SB
authors.lastname: Tang
authors.forename: Li
authors.initials: L
authors.lastname: Quan
authors.forename: Jian-ding
authors.initials: JD
authors.lastname: Cheng
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D002681:China; D004252:DNA Mutational Analysis; D003645:Death, Sudden / Q000208:ethnology*; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics*
chemical_list: D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C489622:KCNE1 protein, human; C489619:KCNE2 protein, human; C000606913:KCNH2 protein, human; D051657:KCNQ1 Potassium Channel; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated