【Objective】 This study sought to investigate the genotype of SCN5A gene in Chinese Han population with sudden manhood death syndrome (SMDS). 【Methods】 Genomic DNA was extracted from 120 SMDS sporadic cases. PCR products spanning the entire coding region and splice junctions of the gene were sequenced. Controls from the same population were then screened for the presence of mutations identified in cases.【Results】 Eleven distinct mutations were identified

of which 2(Y1434Y

L1566L) were synonymous coding mutations

9 were missense mutations. Among the missense mutations

V95I

R121Q

R367H

and R1512W were reported while R513H

D870H

V1202M

V1764D and S1937F were novel. 【Conclusions】 Our results firstly provide comprehensive genotype features of SCN5A gene in Chinese Han population with SMDS

which expands the spectrum of molecular pathology database associated with SMDS and provides new data for understanding the correlation between cardiac sodium channel dysfunction and the mechanisms of SMDS.