Genomic Structure of Three Long QT Syndrome Genes:KVLQT1, HERG,andKCNE1
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- 作者：Splawski ; Igor ; Shen ; Jiaxiang ; Timothy ; Katherine W. ; Vincent ; G. Michael ; Lehmann ; Michael H. ; et. al.
- 刊名：Genomics
- 出版年：1998
- 出版时间：July 1, 1998
- 年：1998
- 卷：51
- 期：1
- 页码：86-97
- 全文大小：1.89 M
文摘
Long QT syndrome (LQT) is a cardiac disorder causing syncope and sudden death from arrhythmias. LQT is characterized by prolongation of the QT interval on electrocardiogram, an indicationof abnormal cardiac repolarization. Mutations inKVLQT1, HERG, SCN5A,andKCNE1,genes encoding cardiac ion channels, cause LQT. Here, we define thecomplete genomic structure of three LQT genesand use this information to identify disease-associated mutations.KVLQT1is composed of 16 exonsand encompasses approximately 400 kb.HERGconsists of 16 exons and spans 55 kb. Three exons make upKCNE1.Each intron of these genes contains the invariant GT and AG at the donor and acceptor splice sites, respectively. Intron sequences were used to design primer pairs for the amplification of all exons. Familial and sporadic cases affected bymutations inKVLQT1, HERG,andKCNE1can nowbe genetically screened to identify individuals at risk of developing this disorder. This work has clinical implications for presymptomatic diagnosis and therapy.