The Investigation Of Gentic Epidemiology And Screening Of Mutation Gene In Brugada Syndrome Families

Objectives:To analyse the genetic model of Brugada syndrome by epidemiological survey and clinical diagnosis, and; Explore the aetiological agent of Brugada syndrome and genes through ssreening all related genes of Brugada and related genes of heart conduction system, And hope to explore new mutations and to provide scientific basis for the prevention and treatment for the disease.Method:Carrying out field epidemiological survey and collecting blood samples on the basis of informed agreement; Using Chi square test to determine the way of inheritance, Using the Li-Mantel-Gart to calculate the segregation ratio;Using UNIQ-10 Column Blood Genomic DNA Isolation Kit and Phenolic chloroform isoamyl alcohol to extract DNA. Using the chain-terminator method to sequence the candidate gene.Result:Epidemiological investigation shows that 17 people died in this two family, the average age of death is 10.5 years old (range from 3 to 51 years old) and the death ratio of male and female is 3.25:1. In two families of Brugada syndrome shows obvious familial aggregation, it is a single-gene autosomal dominant inheritable disease, but it revealing incomplete penetrance; The Family genetic disease is Brugada syndrome by diagnosing proband and investigating the family, two doubtful missense mutation in 26th exon of SCN5A were found.Conclusion:Investigation shows that these two families are Brugada syndrome; The disorder is autosomal dominant inheritable disease. The relationship between L1448C and K1446D of SCN5A and Brugada syndrome need to research further.