青壮年猝死综合征钾离子通道KCNQ1、KCNH2、KCNE1
和KCNE2基因的变异
赵乾皓;刘超;卢龙武;吕国丽;刘宏;唐双柏;权力;成建定
【期刊名称】《法医学杂志》
【年(卷),期】2012(028)005
【摘要】目的研究中国人青壮年猝死综合征(sudden manhood death syndrome,SMDS)病例是否存在KCNQ1、KCNH2、KCNE1和KCNE2基因的变异. 方法应用直接测序技术对116例SMDS散发病例的血样和125例健康者血样进行KCNQ1、KCNH2、KCNE1和KCNE2基因变异的检测. 结果发现14个突变位点,14个多态性位点,其中2个编码区的非同义突变为新发现的突变,而对照组中未发现非同义突变. 结论中国人SMDS病例存在KCNQI、KCNH2、KCNE1和KCNE2基因变异,这些变异可能与部分SMDS的发生相关.%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