JLN综合征中国家系研究新发现的KCNE1基因错义突变  

Newly Discovered Missense Mutation of KCNE1 Gene in Chinese Family Study of JLN Syndrome

作　　者：丁轩诣 丁旵东 杨二丽 成强胜 祝小霞 张建明 章雯 卫园园 张晶晶 DING Xuanyi;DING Chandong;YANG Erli(Hefei No.1 Middle School,Hefei 230601,China)

机构地区：[1]合肥市第一中学,安徽合肥230601 [2]安徽医科大学第二附属医院

出　　处：《中国医学创新》2018年第3期139-142,共4页Medical Innovation of China

基　　金：安徽省自然科学基金资助项目(KJ2011Z186)

摘　　要：目的:对伴发室性心律失常电风暴的Jervell-Lange-Nielsen综合征(JLNS)(先天性QT间期延长综合征伴先天性耳聋亚型)一家系进行基因突变检测,以期发现中国人特有的基因突变。方法:采用聚合酶链反应(PCR)及DNA直接测序法对JLNS一家系进行KCNE1检测。结果:先证者及7位家系成员的KCNE1基因的第112位外显子发现一错义突变:A→G,致丝氨酸密码子(AGT)变成甘氨酸密码子(GGT)。结论:JLNS可由KCNE1基因的突变引起,KCNE1基因第112位A→G错义突变是首次发现的中国JLNS的突变基因及位点。Objective:To detected gene mutation in Chinese family with Jervell-Lange-Nielsen syndrome(JLNS)associated with electrical storm of ventricular arrhythmia(congenital long QT syndrome with congenital deafness subtype),in order to find a specific gene mutation in Chinese.Method:Polymerase chain reaction(PCR)and direct sequencing of DNA were used to detect KCNE1 in a family of JLNS.Result:A missense mutation was found in the 112nd exons of the KCNE1 gene of the proband and 7 members of family:A→G,causing serine codon(AGT)to turn into glycine codon(GGT).Novel heterozygous mutation in the exon 112 of KCNE1 was identified in proband and 7 of 9 her relatives,nucleotide A was replaced by G,which led to change of amino acid.Conclusion:JLNS can be caused by the mutation of the KCNE1 gene,and the A to G missense mutation of the 112nd gene of the KCNE1 gene is the first found mutation gene and site of the Chinese JLNS.

关 键 词：QT延长综合征 基因 突变 

分 类 号：R541.7[医药卫生—心血管疾病] R764.43[医药卫生—内科学]