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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1007/s10661-008-0463-7

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1432-1203

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Genomic organization and mutational analysis of E

Authors: Toshio Itoh T Tanaka Ryozo Nagai Kenjiro Kikuchi Satoshi Ogawa Shintaro Okada Shiro Yamagata Katsusuke Yano Yoshio Yazaki Yusuke Nakamura
Publish Date: 2014/02/17
Volume: 103, Issue: 3, Pages: 290-294
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Abstract

To elucidate the role of the KVLQT1 gene in the pathogenesis of long QT syndrome LQTS we have established a screening system for detecting KVLQT1 mutations by the polymerase chain reactionsingle strand conformation polymorphism technique PCRSSCP We first determined exon/intron boundaries and flanking intronic sequences and found that the KVLQT1 gene consists of 17 coding exons Subsequently we synthesized oligonucleotide primers to cover the coding region and the flanking intronic sequences and searched for mutations in 31 Japanese LQTS families When genomic DNA from each proband was examined by PCRSSCP followed by direct DNA sequencing mutations were detected in five families two independent families carried the same mutation and three of the four were novel Each mutation was present in affected relatives of the respective proband This work will enable us to search more thoroughly for LQTS mutations associated with KVLQT1 and eventually will help us in finding genotype/phenotype relationships

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