Two Brugada Syndrome Family SCN5A Genetic Screening Results9and Relevant Clinical Features

Aim: Brugada syndrome (BrS) is an ion channel coding autosomal dominant disease.Brugada syndrome showed atypical right bundle branch block with ST-segment elevationand right precordial T wave inversion heterogeneous heart rhythm disorders. SCN5A geneencoding the cardiac sodium channel, if there is a mutation leads to deficits, will cause theoccurrence of Brugada syndrome. Our research answers mainly to detect the Brugadasyndrome patients and their family members SCN5A gene exon sequences, screening ofSCN5A gene mutation sites. Methods: charge from Urumqi and Xi’an two cases havebeen diagnosed with Brugada syndrome patients and their family’s blood sample; health ofthe members of the control group, the control group also set up a total of300cases,including100cases of the Han, Uygur100cases, Kazak100cases. Into the group ofsamples were from the Xinjiang region, and at least three generations living in Xinjiang,all samples between unrelated consanguineous marriage history. We were amplified byPCR technology and direct DNA sequencing method detection SCN5A gene exonsequence, sequencing results with normal SCN5A gene sequence alignment analysis. Intothe group of samples of serum were determined by ELISA method, determination of thelevel of the sample in the SCN5A gene analysis than differences between the two sets ofsamples SCN5A gene level, while analysis of the differences in the levels of the differentethnic groups in the control group SCN5A gene. Results: We detected two Brugadasyndrome pedigrees four new SCN5A gene mutation site, and the normal control groupwithout the mutation.2in the case and control groups were found the same mutation sites,sequencing Results DNAMAN NCBI BLAST than the right, and there are six new pointmutations in the SCN5A gene, retrieve all mutation sites in human mononuclearnucleotide polymorphism database record, so we concluded that the newly discoveredSNP sites for new mutations. They are located Exon3(R230Q), Exon5(V469V), Exon6(R511K, V522A), Exon7(K698N), Exon10(G878G). In this experiment, we detected inthe healthy population has been reported to nine SNP loci that rs41313709, rs1805124,rs7430407, rs6599230, rs1805126, rs7429945, rs41310757, rs41315485, rs41315487. Weconducted a statistical analysis of all SNP sites, found that there are significant differencesin distribution of the SNP allele frequencies in different ethnic populations. Inspectionfound that the characteristics of the A1673G-H558R distribution areas of all ethnic groupsin Xinjiang crowd: samples from healthy populations: Han and Uygur populations existsignificant differences (P <0.05) between the Uygur and Kazak population there aresignificant differences (P <0.05), no significant difference (P>0.05) between the Hanand Kazak. We found statistical analysis of the data obtained by researchers at home andabroad, A1673G-H558R China Southern Han Chinese, China’s Xinjiang region crowd,Japan and the United States population distribution, a significant difference (P <0.05).Conclusion: The incidence of Brugada syndrome may exist new SCN5A mutation sites;significant difference in the distribution of single nucleotide polymorphisms (SNPs) in thefamily crowd SCN5A.