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

Title
Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block
Author(s)
신동구박형섭[박형섭]김윤년[김윤년]이영수[이영수]정병천[정병천]이상희조용근[조용근]배명환[배명환]한상미[한상미]이명훈[이명훈]
Keywords
atrioventricular block; Korean; multiplex polymerase chain reaction; sodium channel protein type 5 subunit alpha
Issue Date
201206
Publisher
한국유전체학회
Citation
Genomics & Informatics, v.10, no.2, pp.110 - 116
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.
URI
http://hdl.handle.net/YU.REPOSITORY/27794http://dx.doi.org/10.5808/GI.2012.10.2.110
ISSN
1598-866X
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의과대학 > 내과학교실 > Articles
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