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目的研究一个中国家系 Brugada 综合征相关基因 SCN5A的突变情况。方法收集一个 Brugada 家系的临床资料,采用聚合酶链反应及直接测序法对该家系进行 SCN5A 基因突变检测,同时对136例家系外健康对照者的该位点进行单链构象多态性分析。结果在 Brugada 家系中发现了两个杂合变异,即 SCN5A 基因第二外显子上发现一个同义变异(A129G),没有导致氨基酸的改变(A29A);第26外显子发现一个错义变异(T4492A),导致代表酪氨酸的1494位密码子突变为天门冬酰胺(Y1494N)。结论在中国人 Brugada 综合征患者的 SCN5A 基因上发现了一个已经报道的同义多态位点(A29A)及一个新的错义突变位点(Y1494N)。
Objective To study the mutation of SCN5A in Brugada syndrome in a Chinese pedigree. Methods The clinical data of a Brugada pedigree were collected. The SCN5A gene mutation was detected by polymerase chain reaction and direct sequencing. Single-stranded conformational polymorphism was also analyzed in 136 healthy out-of-family controls. Results Two heterozygous mutations were found in the Brugada pedigree, that is, a synonymous mutation (A129G) was found on the second exon of SCN5A gene, which resulted in no amino acid change (A29A). A missense mutation was found in exon 26 (T4492A), resulting in the mutation of the codon 1494 representing tyrosine to asparagine (Y1494N). Conclusion A synonymous polymorphic site (A29A) and a new missense mutation site (Y1494N) were found in the SCN5A gene of Chinese patients with Brugada syndrome.