Résumé
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.
Sujets)
Humains , Séquence nucléotidique , Études cas-témoins , Chine , Analyse de mutations d'ADN , Mort subite/ethnologie , Canal potassique ERG1 , Canaux potassiques éther-à-go-go/génétique , Canal potassique KCNQ1/génétique , Syndrome du QT long , Mutation , Polymorphisme de nucléotide simple , Canaux potassiques , Canaux potassiques voltage-dépendants/génétiqueRésumé
OBJECTIVE@#To study the value of Fibronectin(Fn) immunohistochemical staining for diagnosing slight viral myocarditis.@*METHODS@#The heart samples of human with myocarditis were studied by using LSAB immunohistochemical staining with anti-fibronectin antibody.@*RESULTS@#Dense deposition was found in the myocardium of human with myocarditis. Some Fn-positive cardiomyocytes were observed.@*CONCLUSION@#Slight degeneration of cardiomyocytes could be identified by Fn-LSAB immunohistochemical staining and Fn-deposition is one of the reliable marks for inflammation in the myocardium.