Detection of genetic variation in KCNQ1 gene by high-resolution melting analysis in a prospective-based series of postmortem negative sudden death: Comparison of results obtained in fresh frozen and formalin-fixed paraffin-embedded tissues

International Journal of Legal Medicine

Volumn 126, Issue 4, 2012, Pages 649-657

  Farrugia, Audrey ^a   Keyser, Christine ^a   Ludes, Bertrand ^a  

^a INSTITUT DE MÉDECINE LÉGALE   (France)

Author keywords

Formalin fixed and paraffin embedded tissue; High resolution melting; KCNQ1; Sudden cardiac death

Indexed keywords

FORMALDEHYDE; KCNQ1 PROTEIN, HUMAN; PARAFFIN; POTASSIUM CHANNEL KCNQ1;

ADOLESCENT; ADULT; ARTICLE; COMPARATIVE STUDY; CRYOPRESERVATION; DNA SEQUENCE; EXON; FEMALE; GENETICS; HUMAN; INFANT; INTRON; MALE; METHODOLOGY; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROSPECTIVE STUDY; REAL TIME POLYMERASE CHAIN REACTION; SUDDEN DEATH; TISSUE FIXATION;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CRYOPRESERVATION; DEATH, SUDDEN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FORMALDEHYDE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; KCNQ1 POTASSIUM CHANNEL; MALE; MUTATION; PARAFFIN EMBEDDING; PROSPECTIVE STUDIES; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TISSUE FIXATION; YOUNG ADULT;

EID: 84864031080     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-012-0688-4     Document Type: Article

References (44)

1. Basso C, Burke M, Fornes P, Gallagher PJ, de Gouveia RH, Sheppard M, Thiene G, van der Wal A (2008) Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch 452(1):11-18
2. Doolan A, Langlois N, Chiu C, Ingles J, Lind JM, Semsarian C (2008) Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians. Int J Cardiol 127(1):138-141 (Pubitemid 351707517)
3. Doolan A, Langlois N, Semsarian C (2004) Causes of sudden cardiac death in young Australians. Med J Aust 180(3):110-112 (Pubitemid 38173103)
4. Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO (1996) Sudden death in young competitive ath-letes. Clinical, demographic, and pathological profiles. Jama 276(3):199-204 (Pubitemid 26235063)
5. Tester DJ, Ackerman MJ (2006) The role ofmolecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol 21(3):166-172 (Pubitemid 44315078)
6. Rodriguez-Calvo MS, Brion M, Allegue C, Concheiro L, Carracedo A (2008) Molecular Genetics of sudden cardiac death. Forensic Sci Int 182(1-3):1-12
7. Allegue C, Gil R, Blanco-Verea A, Santori M, Rodriguez-Calvo M, Concheiro L, Carracedo A, Brion M (2011) Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases. Int J Legal Med 125(4):565-572
8. Edelmann J, Schumann S, Nastainczyk M, Husser-Bollmann D, Lessig R (2011) Long QT syndrome mutation detection by SNaP-shot technique. Int J Legal Med
9. Brion M, Quintela I, Sobrino B, Torres M, Allegue C, Carracedo A (2010) New technologies in the Genetic approach to sudden cardiac death in the young. Forensic Sci Int 203(1-3):15-24
10. Reed GH, Kent JO, Wittwer CT (2007) High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8(6):597-608 (Pubitemid 46939585)
11. Erali M, Wittwer CT (2010) High resolution melting analysis for gene scanning. Methods 50(4):250-261
12. Millat G, Chanavat V, Rodriguez-Lafrasse C, Rousson R (2009) Rapid, sensitive and inexpensive detection of SCN5A Genetic variations by high resolution melting analysis. Clin Biochem 42 (6):491-499
13. Montgomery JL, Sanford LN, Wittwer CT (2010) High-resolution DNA melting analysis in clinical research and diagnostics. Expert Rev Mol Diagn 10(2):219-240
14. Hedley PL, Jorgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M (2009) The Genetic basis oflong QT and short QT syndromes: a mutation update. Hum Mutat30(11):1486-1511
15. Hedley PL, Jorgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M (2009) The Genetic basis ofBrugadasyndrome: amutationupdate. HumMutat30(9):1256-1266
16. Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M (2001) A missense mutation in a highly conserved region ofCASQ2 is associated with autosomal recessive catecholamine-induced poly-morphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 69(6):1378-1384 (Pubitemid 33124218)
17. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA (2001) Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ven-tricular tachycardia. Circulation 103(2):196-200 (Pubitemid 32095402)
18. Millat G, Chanavat V, Crehalet H, Rousson R (2011) Development of a high resolution melting method for the detection of Genetic variations in Long QT syndrome. Clin Chim Acta 412(1-2):203-207
19. Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR (2011) Prospective, population-based long QT molecular autopsy study of post-mortem negative sudden death in 1-40 year olds. Hear Rhythm 8(3):412-419
20. Kiehne N, Kauferstein S (2007) Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death? Forensic Sci Int Genet 1(2):170-174 (Pubitemid 46760392)
21. Ackerman MJ, Tester DJ, Driscoll DJ (2001) Molecular autopsy of sudden unexplained death in the young. Am J Forensic Med Pathol 22(2):105-111 (Pubitemid 32494104)
22. Chugh SS, Senashova O, Watts A, Tran PT, Zhou Z, Gong Q, Titus JL, Hayflick SJ (2004) Postmortem molecular screening in unex-plained sudden death. J Am Coll Cardiol 43(9):1625-1629 (Pubitemid 38561345)
23. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA (2001) Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. Jama 286 (18):2264-2269 (Pubitemid 33063149)
24. Michaud K, Mangin P, Elger BS (2011) Genetic analysis of sudden cardiac death victims: a survey ofcurrent forensic autopsy practi-ces. Int J Legal Med 125(3):359-366
25. Do H, Krypuy M, Mitchell PL, Fox SB, Dobrovic A (2008) High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies. BMC Cancer 8:142
26. Do H, Solomon B, Mitchell PL, Fox SB, Dobrovic A (2008) Detec-tion of the transforming AKT1 mutation E17K in non-small cell lung cancer by high resolution melting. BMC Res Notes 1:14
27. Heideman DA, Thunnissen FB, Doeleman M, Kramer D, Verheul HM, Smit EF, Postmus PE, Meijer CJ, Meijer GA, Snijders PJ (2009) A panel ofhigh resolution melting (HRM) technology-based assays with direct sequencing possibility for effective mutation screening of EGFR and K-ras genes. Cell Oncol 31(5):329-333
28. Ma ES, Wong CL, Law FB, Chan WK, Siu D (2009) Detection of KRAS mutations in colorectal cancer by high-resolution melting analysis. J Clin Pathol 62(10):886-891
29. Pichler M, Balic M, Stadelmeyer E, Ausch C, Wild M, Guelly C, Bauernhofer T, Samonigg H, Hoefler G, Dandachi N (2009) Eval-uation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors. J Mol Diagn 11(2):140-147
30. Farrugia A, Keyser C, Ludes B (2010) Efficiency evaluation of a DNA extraction and purification protocol on archival formalin-fixed and paraffin-embedded tissue. Forensic Sci Int 194(1-3): e25-e28
31. Antonarakis SE (1998) Recommendations for a nomenclature sys-tem for human gene mutations. Nomenclature Working Group. Hum Mutat 11(1):1-3 (Pubitemid 128679142)
32. Barc J, Briec F, Schmitt S, Kyndt F, Le CunffM, Baron E, Vieyres C, Sacher F, Redon R, Le Caignec C, Le Marec H, Probst V, Schott JJ (2011) Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. J Am Coll Cardiol 57(1):40-47
33. Tester DJ, Ackerman MJ (2008) Novel gene and mutation discov-ery in congenital long QT syndrome: let's keep looking where the street lamp standeth. Hear Rhythm 5(9):1282-1284
34. Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet 13(11):1213-1222
35. Jongbloed R, Marcelis C, Velter C, Doevendans P, Geraedts J, Smeets H (2002) DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat 20(5):382-391 (Pubitemid 35285057)
36. Aydin A, Bahring S, Dahm S, Guenther UP, Uhlmann R, Busjahn A, Luft FC (2005) Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl) 83(2):159-165 (Pubitemid 40379304)
37. Iwasa HIT, Nagai R, Nakamura Y, Tanaka T (2000) Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet 45(3):182-183 (Pubitemid 30324122)
38. Lee MPHR, Johnson LA, Feinberg AP (1997) Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet 15(2):181-185 (Pubitemid 27061639)
39. Creighton W, Virmani R, Kutys R, Burke A (2006) Identifica-tion of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy. J Mol Diagn 8(1):62-67 (Pubitemid 43257435)
40. Tester DJ, Ackerman MJ (2007) Postmortem long QT syndrome Genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 49(2):240-246 (Pubitemid 46054388)
41. Di Paolo M, Luchini D, Bloise R, Priori SG (2004) Postmortem molecular analysis in victims of sudden unexplained death. Am J Forensic Med Pathol 25(2):182-184 (Pubitemid 38702550)
42. Quach N, Goodman MF, Shibata D (2004) In vitro mutation artifacts after formalin fixation and error prone translesion synthe-sis during PCR. BMC Clin Pathol 4(1):1
43. Srinivasan M, Sedmak D, Jewell S (2002) Effect offixatives and tissue processing on the content and integrity ofnucleic acids. Am JPathol 161(6):1961-1971 (Pubitemid 35434840)
44. Williams C, Ponten F, Moberg C, Soderkvist P, Uhlen M, Ponten J, Sitbon G, Lundeberg J (1999) A high frequency of sequence alterations is due to formalin fixation of archival specimens. Am JPathol 155(5):1467-1471