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目的研究一个扩张型心肌病伴房室传导阻滞家系中心脏钠离子通道基因(voltagegated sodium channel type V,SCN5A)的遗传突变或多态位点。方法应用聚合酶链反应结合DNA直接测序技术对该家系的23位直系成员进行SCN5A基因编码区全部28个外显子的检测;对于新发现的变异位点筛查133名无血缘关系的正常人作为对照。结果在该家系中共检测到4个遗传变异,分别为c.87G>A(A29A),c.731T>C(I244T),c.3578G>A(R1193Q)和c.5457T>C(D1819D)。其中c.731T>C(I244T)为新发现的遗传变异,位于第7外显子,碱基的变异导致氨基酸第244位由苏氨酸代替异亮氨酸。家系中有4名成员携带I244T,但是133名健康对照者中未发现该变异。结论在一个扩张型心肌病伴房室传导阻滞家系中发现了SCN5A基因的新遗传变异。
Objective To investigate the genetic mutations or polymorphic sites of voltagegated sodium channel type V (SCN5A) in a family of dilated cardiomyopathy with atrioventricular block. Methods All 28 exons in coding region of SCN5A gene were detected in 23 direct members of this pedigree by polymerase chain reaction and DNA direct sequencing. For the newly discovered mutation sites, 133 unrelated normals as comparison. Results Four genetic variations were detected in this pedigree, which were c.87G> A (A29A), c.731T> C (I244T), c.3578G> A (R1193Q) and c.5457T> C (D1819D). Among them, c.731T> C (I244T) was a newly discovered genetic variation located at exon 7, and the base mutation resulted in threonine instead of isoleucine at amino acid position 244. Four members of the pedigree carried the I244T, but no mutation was found in 133 healthy controls. Conclusions A novel genetic variation in the SCN5A gene was found in a family of dilated cardiomyopathy with atrioventricular block.