Portal de Periódicos da CAPES

Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy

2002; Wiley; Volume: 113; Issue: 2 Linguagem: Inglês

10.1002/ajmg.10744

1096-8628

Retno Sutomo, Tomoko Akutsu, Yasuhiro Takeshima, Hisahide Nishio, Ahmad Hamim Sadewa, Yosuke Harada, Masafumi Matsuo,

Congenital Anomalies and Fetal Surgery

American Journal of Medical GeneticsVolume 113, Issue 2 p. 225-226 Research Letter Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy Retno Sutomo, Retno Sutomo Division of Pediatrics, Department of Development and Aging, Faculty of Medicine, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorTomoko Akutsu, Tomoko Akutsu Division of Pediatrics, Department of Development and Aging, Faculty of Medicine, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorYasuhiro Takeshima, Yasuhiro Takeshima Division of Pediatrics, Department of Development and Aging, Faculty of Medicine, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorHisahide Nishio, Corresponding Author Hisahide Nishio [email protected] Division of Public Health, Department of Environmental Health, Faculty of Medicine and Safety, Kobe University Graduate School, of Medicine Kobe, JapanDivision of Public Health, Department of Environmental Health and Safety, Faculty of Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.Search for more papers by this authorAhmad Hamim Sadewa, Ahmad Hamim Sadewa Division of Public Health, Department of Environmental Health, Faculty of Medicine and Safety, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorYosuke Harada, Yosuke Harada Division of Public Health, Department of Environmental Health, Faculty of Medicine and Safety, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorMasafumi Matsuo, Masafumi Matsuo Division of Molecular Medicine, Department of International and Environmental Medical Sciences, Faculty of Medicine, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this author Retno Sutomo, Retno Sutomo Division of Pediatrics, Department of Development and Aging, Faculty of Medicine, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorTomoko Akutsu, Tomoko Akutsu Division of Pediatrics, Department of Development and Aging, Faculty of Medicine, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorYasuhiro Takeshima, Yasuhiro Takeshima Division of Pediatrics, Department of Development and Aging, Faculty of Medicine, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorHisahide Nishio, Corresponding Author Hisahide Nishio [email protected] Division of Public Health, Department of Environmental Health, Faculty of Medicine and Safety, Kobe University Graduate School, of Medicine Kobe, JapanDivision of Public Health, Department of Environmental Health and Safety, Faculty of Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.Search for more papers by this authorAhmad Hamim Sadewa, Ahmad Hamim Sadewa Division of Public Health, Department of Environmental Health, Faculty of Medicine and Safety, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorYosuke Harada, Yosuke Harada Division of Public Health, Department of Environmental Health, Faculty of Medicine and Safety, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this authorMasafumi Matsuo, Masafumi Matsuo Division of Molecular Medicine, Department of International and Environmental Medical Sciences, Faculty of Medicine, Kobe University Graduate School, of Medicine Kobe, JapanSearch for more papers by this author First published: 14 August 2002 https://doi.org/10.1002/ajmg.10744Citations: 25Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Choy YS, Dabora SL, Hall F, Ramesh V, Niida Y, Frans D, Kasprzyk-Obara J, Reeve MP, Kwiatkowski DJ. 1999. Superiority of denaturing high performance liquid chromatography over single stranded conformation and conformation sensitive gel electrophoresis for mutation detection in TSC2. Ann Hum Genet 63: 383–391. Hecker KH, Asea A, Kobayashi K, Green S, Tang D, Calderwood SK. 2000. Mutation detection in the human HSP708′ gene by denaturing high-performance liquid chromatography. Cell Stress Chaper 5: 415–424. Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner P, Cheadle JP, O' Donovan MC. 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45: 1133–1140. Levebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal J, Cohen D, Weissenbach J, Munnich A, Melki J. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155–165. Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD. 1998. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acid Res 26: 1396–1400. Nishio H, Ishikawa Y, Lee MJ, Fujii M, Kanda J, Jinnai K, Takahashi K, Takeshima Y, Wada H, Takada S, Nakamura H, Matsuo M, Sumino K. 1997. Decreased expression of full-length mRNA for cBCD541 does not correlate with spinal muscular atrophy phenotype severity. Neurology 48: 1266–1270. Nishio H, Ishikawa Y, Lee MJ, Takeshima Y, Wada H, Takada S, Nakamura H, Matsuo M, Sumino K. 1999. High incidence of a survival motor neuron gene/cBCD541 gene ratio of 2 in Japanese parents of spinal muscular atrophy patients: a characteristic background of spinal muscular atrophy in Japan? J Neurol 246: 48–52. O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer SS, McGuffin P. 1998. Blind analysis of denaturing-high performance liquid chromatography as a tool for mutation detection. Genomics 52: 44–49. Oefner PJ, Underhill PA. 1995. Comparative DNA sequencing by denaturing high performance liquid chromatography (DHPLC). Am J Hum Genet 57: A226. Oefner PJ, Underhill PA. 1998. DNA mutation detection using denaturing high-performance liquid chromatography. In: Current protocols in human genetics. Supplement 19. New York: John Wiley & Sons. 7.10.1–7.10.12. Van Der Steege G, Grootscholten PM, Van Der Vlies P, Draaijers TG, Osinga J, Cobben JM, Scheffer H, Buys CHCM. 1995. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345: 985–986. Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pages S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P. 1999. Denaturing high-performance chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62: 369–376. Citing Literature Volume113, Issue222 November 2002Pages 225-226 ReferencesRelatedInformation