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目的研究Brugada综合征相关基因SCN5A突变情况。方法以4例Brugada综合征患者和9例临床可疑Brugada综合征患者为研究对象,采用聚合酶链反应和双脱氧末端终止测序法对所有患者进行SCN5A基因扫描。对阳性结果者进行家系中其他成员的筛查。结果在1个Brugada综合征家系发现两个杂合突变,即SCN5A基因第3外显子上发现一错义突变(G283A),导致代表缬氨酸残基的第95位密码子突变为异亮氨酸残基(V95I),第28外显子上也发现一错义突变(C4946T),导致代表丙氨酸的第1649位密码子突变为缬氨酸(A1649V)。在1个临床可疑Brugada综合征家系发现一杂合突变,即SCN5A基因第28外显子缺失3个碱基(TCT),导致代表苯丙氨酸残基的第1617位密码子缺失(delF1617)。结论在Brugada综合征患者发现了3个SCN5A基因新突变(V95I、A1649V、ddF1617)。
Objective To study the mutation of SCN5A in Brugada syndrome. Methods Four patients with Brugada syndrome and nine patients with clinically suspected Brugada syndrome were enrolled in this study. All patients underwent SCN5A gene scanning by polymerase chain reaction and dideoxy terminator sequencing. Screening positives for other members of the pedigree. Results Two heterozygous mutations were found in one Brugada syndrome pedigree, that is, a missense mutation (G283A) was found on exon 3 of SCN5A gene, resulting in the mutation of the 95th codon representing the valine residue to isoleucine Amino acid residue (V95I), a missense mutation (C4946T) was also found on exon 28, resulting in the mutation of the codon 1649 representing alanine to valine (A1649V). A heterozygous mutation was found in one of the clinically suspected Brugada syndrome families, the deletion of three bases (TCT) of exon 28 of the SCN5A gene, resulting in the deletion of codon 1617 (delF1617), which represents the phenylalanine residue . Conclusion Three novel mutations in SCN5A gene were found in Brugada syndrome (V95I, A1649V, ddF1617).