Polymorphic analysis and new mutations detection of SCN5A gene single nucleotide in two Brugada syndrome nuclear pedigrees
Qin Hao-xua · The Chinese Journal of Cardiac Pacing and Electrophysiology · 2013
Objective To investigate the mutations of SCN5A gene single nucleotide polymorphism( SNP) in two Chinese Brugada syndrome families and to understand the gene polymorphism of SCN5A in three different ethnic groups included Han, Kazak and Uygur in Xinjiang. Methods Two patients who had been diagnosed as Brugada syndrome and their family members were incorporated as research subjects,246 healthy person( Han 75,Kazak 68,Uygur 103) were included as a control. Polymerase chain reaction( PCR) was used to amplify the exon sequences and direct DNA sequences,which were used for mutations,The sequencing results were screened by DNAMAN,UCSC,NCBI gene Bank,nucleic acid sequence detection and statistical analysis to understand the gene polymorphism. Results One mutation site( T909-) on exon 7 of SCN5A was found in two Brugada syndrome patients and some other family members,totally 29 person had the T909- mutation in the group of healthy people. By comparing and screening,T909-had not yet been recorded in SNP database,And there was a significant statistically difference( P 0. 05) of T909-Genotype frequencies and Allele distribution between the healthy Han group and Brugada syndrome families,and there was no significant statistically difference( P 0. 0 5) in Han,Kazak and Uygur. Conclusion The T909- on exon7 may be a new mutation,The distribution of the sites may not vary among different ethnicities.