[青壮年猝死综合征中KCNQ1、KCNH2、KCNE1和KCNE2钾通道基因变异]
[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].
作者信息
Zhao Qian-hao, Liu Chao, Lu Long-wu, Lü Guo-li, Liu Hong, Tang Shuang-bo, Quan Li, Cheng Jian-ding
机构信息
Department of Forensic Pathology, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, China.
出版信息
Fa Yi Xue Za Zhi. 2012 Oct;28(5):337-41, 346.
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.
目的
研究青壮年猝死综合征（SMDS）病例中的KCNQ1、KCNH2、KCNE1和KCNE2基因变异情况。
方法
纳入116例散发性SMDS病例和125例健康对照样本。从血液样本中提取基因组DNA。通过直接测序筛选KCNQ1、KCNH2、KCNE1和KCNE2的基因变异。
结果
共检测到14个突变和14个单核苷酸多态性（SNP）。其中两个非同义突变是新发现的。在对照组中未发现非同义突变。
结论
在中国SMDS病例中发现了KCNQ1、KCNH2、KCNE1和KCNE2基因变异。KCNQ1、KCNH2、KCNE1和KCNE2基因突变可能与中国部分SMDS病例的发生有一定关联。
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