Genetic Analysis of in Korean Patients Associated with Atrioventricular Conduction Block
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 i...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BioMed Central
2012-06-01
|
| Series: | Genomics & Informatics |
| Subjects: | |
| Online Access: | http://genominfo.org/upload/pdf/gni-10-110.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832569065011412992 |
|---|---|
| author | Hyoung Seob Park Yoon Nyun Kim Young Soo Lee Byung Chun Jung Sang Hee Lee Dong Gu Shin Yongkeun Cho Myung Hwan Bae Sang Mi Han Myung Hoon Lee |
| author_facet | Hyoung Seob Park Yoon Nyun Kim Young Soo Lee Byung Chun Jung Sang Hee Lee Dong Gu Shin Yongkeun Cho Myung Hwan Bae Sang Mi Han Myung Hoon Lee |
| author_sort | Hyoung Seob Park |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a5b8943a659047b2bd2d3225a34d3f64 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2012-06-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-a5b8943a659047b2bd2d3225a34d3f642025-02-02T23:19:02ZengBioMed CentralGenomics & Informatics1598-866X2234-07422012-06-0110211011610.5808/GI.2012.10.2.1101Genetic Analysis of in Korean Patients Associated with Atrioventricular Conduction BlockHyoung Seob Park0Yoon Nyun Kim1Young Soo Lee2Byung Chun Jung3Sang Hee Lee4Dong Gu Shin5Yongkeun Cho6Myung Hwan Bae7Sang Mi Han8Myung Hoon Lee9Division of Cardiology, Department of Internal Medicine, Keimyung University School of Medicine, Daegu 700-712, Korea.Division of Cardiology, Department of Internal Medicine, Keimyung University School of Medicine, Daegu 700-712, Korea.Department of Internal Medicine, Catholic University Medical Center, Daegu 705-718, Korea.Department of Internal Medicine, Daegu Fatima Hospital, Daegu 701-600, Korea.Department of Internal Medicine, Yeungnam University College of Medicine, Daegu 705-717, Korea.Department of Internal Medicine, Yeungnam University College of Medicine, Daegu 705-717, Korea.Department of Internal Medicine, Kyungpook National University Hosital, Daegu 700-721, Korea.Department of Internal Medicine, Kyungpook National University Hosital, Daegu 700-721, Korea.D&P Biotech, Daegu 702-911, Korea.D&P Biotech, Daegu 702-911, Korea.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.http://genominfo.org/upload/pdf/gni-10-110.pdfatrioventricular blockKoreanmultiplex polymerase chain reactionsodium channel protein type 5 subunit alpha |
| spellingShingle | Hyoung Seob Park Yoon Nyun Kim Young Soo Lee Byung Chun Jung Sang Hee Lee Dong Gu Shin Yongkeun Cho Myung Hwan Bae Sang Mi Han Myung Hoon Lee Genetic Analysis of in Korean Patients Associated with Atrioventricular Conduction Block Genomics & Informatics atrioventricular block Korean multiplex polymerase chain reaction sodium channel protein type 5 subunit alpha |
| title | Genetic Analysis of in Korean Patients Associated with Atrioventricular Conduction Block |
| title_full | Genetic Analysis of in Korean Patients Associated with Atrioventricular Conduction Block |
| title_fullStr | Genetic Analysis of in Korean Patients Associated with Atrioventricular Conduction Block |
| title_full_unstemmed | Genetic Analysis of in Korean Patients Associated with Atrioventricular Conduction Block |
| title_short | Genetic Analysis of in Korean Patients Associated with Atrioventricular Conduction Block |
| title_sort | genetic analysis of in korean patients associated with atrioventricular conduction block |
| topic | atrioventricular block Korean multiplex polymerase chain reaction sodium channel protein type 5 subunit alpha |
| url | http://genominfo.org/upload/pdf/gni-10-110.pdf |
| work_keys_str_mv | AT hyoungseobpark geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT yoonnyunkim geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT youngsoolee geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT byungchunjung geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT sangheelee geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT donggushin geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT yongkeuncho geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT myunghwanbae geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT sangmihan geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock AT myunghoonlee geneticanalysisofinkoreanpatientsassociatedwithatrioventricularconductionblock |