A candidate locus approach identifies a long QT syndrome gene mutation. Biol Res Nurs 2003 Oct;5(2):97-104
Date
10/09/2003Pubmed ID
14531214DOI
10.1177/1099800403257281Scopus ID
2-s2.0-0642346767 (requires institutional sign-in at Scopus site) 4 CitationsAbstract
Long QT syndrome is an inherited disorder that results in lengthened cardiac repolarization. It can lead to sudden onset of torsades de pointes, ventricular fibrillation, and death. The authors obtained a family history, performed electrocardiograms, and drew blood for DNA extraction and genotyping from 15 family members representing 4 generations of an affected family. Seven individuals demonstrated prolonged QT intervals. The authors used polymorphic short tandem repeat markers at known LQTS loci, which indicated linkage to chromosome 11p15.5 where the potassium channel, KCNQ1, is encoded. Polymerase chain reaction was used to amplify the coding region of KCNQ1. During survey of the KCNQ1 coding region, a G-to-A transition (G502A) was identified. DNA from all clinically affected but from none of the clinically unaffected family members carried the G-to-A transition. The candidate locus approach allowed an efficient mechanism to uncover the potassium channel mutation causing LQTS in this family.
Author List
Beery TA, Dyment M, Shooner K, Knilans TK, Benson DWMESH terms used to index this publication - Major topics in bold
AdolescentChromosome Mapping
Chromosomes, Human, Pair 11
Electrocardiography
Female
Genetic Testing
Genotype
Humans
KCNQ Potassium Channels
KCNQ1 Potassium Channel
Long QT Syndrome
Medical History Taking
Minisatellite Repeats
Mutation
Pedigree
Penetrance
Polymerase Chain Reaction
Polymorphism, Genetic
Potassium Channels
Potassium Channels, Voltage-Gated
Quantitative Trait Loci
