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Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block

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Author(s)
Hyoung Seob ParkYoon Nyun KimYoung Soo LeeByung Chun JungSang Hee LeeDong Gu ShinYongkeun ChoMyung Hwan BaeSang Mi HanMyung Hoon Lee
Keimyung Author(s)
Park, Hyoung SeobKim, Yoon Nyun
Department
Dept. of Internal Medicine (내과학)
Journal Title
Genomics & Informatics
Issued Date
2012
Volume
10
Issue
2
Abstract
Recent several studies have shown that the genetic variation of SCN5A is related with atrioventricular conduction block
(AVB); no study has yet been published in Koreans. Therefore, to determine the AVB-associated genetic variation in Korean
patients, we investigated the genetic variation of SCN5A in Korean patients with AVB and compared with normal control
subjects. We enrolled 113 patients with AVB and 80 normal controls with no cardiac symptoms. DNA was isolated from the
peripheral blood, and all exons (exon 2-exon 28) except the untranslated region and exon-intron boundaries of the SCN5A
gene were amplified by multiplex PCR and directly sequenced using an ABI PRISM 3100 Genetic Analyzer. When a variation
was discovered in genomic DNA from AVB patients, we confirmed whether the same variation existed in the control genomic
DNA. In the present study, a total of 7 genetic variations were detected in 113 AVB patients. Of the 7 variations, 5
(G87A-A29A, intervening sequence 9-3C>A, A1673G-H558R, G3578A-R1193Q, and T5457C-D1819D) have been reported
in previous studies, and 2 (C48G-F16L and G3048A-T1016T) were novel variations that have not been reported. The 2 newly
discovered variations were not found in the 80 normal controls. In addition, G298S, G514C, P1008S, G1406R, and D1595N,
identified in other ethnic populations, were not detected in this study. We found 2 novel genetic variations in the SCN5A
gene in Korean patients with AVB. However, further functional study might be needed.
Keywords: atrioventricular block, Korean, multiplex polymerase chain reaction, sodium channel protein type 5 subunit alpha
Keimyung Author(s)(Kor)
박형섭
김윤년
Publisher
School of Medicine
Citation
Hyoung Seob Park et al. (2012). Genetic Analysis of SCN5A in Korean Patients
Associated with Atrioventricular Conduction Block. Genomics & Informatics, 10(2), 110–116. doi: 10.5808/GI.2012.10.2.110
Type
Article
ISSN
1598-866X
DOI
10.5808/GI.2012.10.2.110
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/35777
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
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