DEVELOPMENT OF HALOPLEX PANEL AND PREPARATION OF DNA LIBRARIES FOR TARGETED SEQUENCING OF CARDIAC ARRHYTHMIAS
Method of preparation of custom HaloPlex cardiogenetic panel (Agilent Technologies) and method of preparation of DNA libraries for targeted sequencing of 96 genes associated with cardiac arrhythmias were described in details in this article. SureDesign Online Design software (Agilent Technologies) was used to create the HaloPlex panel. Final design was developed for Illumina platform using Human Genome version 19, GRCh 37. 19958 amplicons were generated by the program, 99,46% of all target regions were covered successfully. DNA libraries were prepared for 48 samples using the custom HaloPlex cardiogenetic panel.
Ainur Akhmetova1, Zhannur Abilova1, Makhabbat Bekbosynova2, Katrin Panzitt3, Slave Trajanoski3, Christian Guelly3, Ainur Akilzhanova1
1 National Laboratory Astana, Nazarbayev University, Astana, Kazakhstan;
2 National Research Cardiac Surgery Center, Astana, Kazakhstan;
3 Center for Medical Research, Medical University of Graz, Graz, Austria
1. Aronow W.S. Treatment of ventricular arrhythmias in older adults. J Am Geriatr Soc 1995;43:688–95.
2. Bauce B., Rampazzo A., Basso C., Bagattin A., Daliento L., Tiso N., Turrini P., Thiene G., Danieli G.A., Nava A. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol 2002, 40:341–349.
3. Chen Q., Kirsch G.E., Zhang D., Brugada R., Brugada J., Brugada P., Potenza D., Moya A., Borggrefe M., Breithardt G., Ortiz-Lopez R., Wang Z., Antzelevitch C., O’Brien R.E., Schulze-Bahr E., Keating M.T., Towbin J.A., Wang Q. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998, 392:293–296.
4. Corrado В., Basso C., Thiene G.. Sudden cardiac death in young people with apparently normal heart, Cardiovasc. Res. 50 (2001) 399–408.
5. Keating M.T., Sanguinetti M.C. Molecular and cellular mechanisms of cardiac arrhythmias. Cell 2001, 104:569–580
6. Laitinen P.J., Brown K.M., Piippo K., Swan H., Devaney J.M., Brahmbhatt B., Donarum E.A., Marino M., Tiso N., Viitasalo M., Toivonen L., Stephan D.A., Kontula K. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001, 103:485–490.
7. Martin C.A., Huang C.L., Matthews G.D. Recent developments in the management of patients at risk for sudden cardiac death. Postgrad Med. 2011 Mar;123(2):84-94. doi: 10.3810/pgm. 2011.03.2266.
8. Priori S.G., Napolitano C., Tiso N., Memmi M., Vignati G., Bloise R., Sorrentino V., Danieli G.A. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001, 103:196–200.
9. Priori S.G., Napolitano C., Memmi M., Colombi B., Drago F., Gasparini M., DeSimone L., Coltorti F., Bloise R., Keegan R., Cruz Filho F.E., Vignati G., Benatar A., DeLogu A. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002, 106:69–74.
10. Puranik R., Chow C.K., Duflou J.A., Kilborn M.J., McGuire M.A. Sudden death in the young. Heart Rhythm 2 (2005) 1277–1282.
11. Reid D.S., Tynan M., Braidwood L., Fitzgerald G.R. Bidirectional tachycardia in a child. A study using His bundle electrography. Br Heart J 1975, 37:339–344.
12. Roden D.M., American Heart Association. Cardiovascular genetics and genomics. Chichester: Wiley-Blackwell; 2009.
13. Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S., Robinson J.L., Moss A.J., Schwartz P.J., Towbin J.A., Vincent G.M., Keating M.T. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000, 102:1178–1185.
14. Swan H., Piippo K., Viitasalo M., Heikkila P., Paavonen T., Kainulainen K., Kere J., Keto P., Kontula K., Toivonen L. Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 1999, 34:2035–2042.
15. Tiso N., Stephan D.A., Nava A., Bagattin A., Devaney J.M., Stanchi F., Larderet G., Brahmbhatt B., Brown K., Bauce B., Muriago M., Basso C., Thiene G., Danieli G.A., Rampazzo A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001, 10:189–194.
16. http://www.chem.agilent.com/library/datasheets/Public/HaloplexCardiomyopathyandArrhythmiaPanelsDataSheet59912525EN.pdf
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Ахметова А.Ж., Абилова Ж.М., Бекбосынова М.С., Panzitt K., Trajanoski S., Guelly C., Акильжанова А.Р. Разработка HaloPlex панели и подготовка ДНК-библиотек для таргетного секвенирования сердечных аритмий / / Наука и Здравоохранение. 2016. №5. С. 43-52. Akhmetova A., Abilova Zh., Bekbosynova M., Panzitt K., Trajanoski S., Guelly C., Akilzhanova A. Development of HaloPlex panel and preparation of DNA libraries for targeted sequencing of cardiac arrhythmias. Nauka i Zdravookhranenie [Science & Healthcare]. 2016, 5, pp. 43-52. Ахметова А.Ж., Абилова Ж.М., Бекбосынова М.С., Panzitt K., Trajanoski S., Guelly C., Акильжанова А.Р. HaloPlex панелін әзірлеу және жүрек аритмияларын таргетті секвенирлеуге ДНҚ-кітапханаларын дайындау / / Ғылым және Денсаулық сақтау. 2016. №5. Б. 43-52.Related publications:
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