Document Detail

[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].
MedLine Citation:
PMID:  23213782     Owner:  NLM     Status:  In-Process    
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.
CONCLUSION: 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.
Qian-hao Zhao; Chao Liu; Long-wu Lu; Guo-li Lü; Hong Liu; Shuang-bo Tang; Li Quan; Jian-ding Cheng
Publication Detail:
Type:  English Abstract; Journal Article    
Journal Detail:
Title:  Fa yi xue za zhi     Volume:  28     ISSN:  1004-5619     ISO Abbreviation:  Fa Yi Xue Za Zhi     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-12-06     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9426151     Medline TA:  Fa Yi Xue Za Zhi     Country:  China    
Other Details:
Languages:  chi     Pagination:  337-41, 346     Citation Subset:  IM    
Department of Forensic Pathology, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, China.
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