Analisi di Melt ad alta risoluzione (High Resolution Melt Analysis, HRMA): nuovo metodo di screening per il gene PKD2 in famiglie con malattia autosomica dominante del rene policistico

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• 作者：Grazia Maria Virzì (1) (2) (4)
  Alice Bruson (3)
  Valentina Corradi (1) (2)
  Massimo de Cal (1) (2)
  Fiorella Gastaldon (1)
  Dinna N. Cruz (1) (2)
  Maurizio Clementi (3)
  Claudio Ronco (1) (2)
  
• 关键词：Melt ad alta risoluzione ; Screening genetico ; ADPKDS ; High resolution melting analysis ; Mutation screening ; ADPKDS
• 刊名：La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine
• 出版年：2012
• 出版时间：September 2012
• 年：2012
• 卷：8
• 期：3
• 页码：168-175
• 全文大小：255KB
• 参考文献：1. Binczak-Kuleta A, Rozanski J, Domanski L et al (2006) DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study. J Appl Genet 47:383-89 CrossRef
  2. Torres VE, Harris PC, Pirson Y (2007) Autosomal dominant polycystic kidney disease. Lancet 369:1287-01 CrossRef
  3. Corradi V, Gastaldon F, Virzì GM et al (2010) Epidemiological and molecular study of autosomal dominant polycystic kidney disease (ADPKD) in the province of Vicenza, Italy: possible founder effect? G Ital Nefrol 27:655-63
  4. Rossetti S, Consugar MB, Chapman AB et al; CRISP Consortium (2007) Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 18: 2143-160 CrossRef
  5. Torres MJ, Rodriguez Pérez JC, Hernández Socorro CR et al (2006) Molecular diagnosis of adult dominant polycystic kidney disease in the Canary Islands. Nefrologia 26:666-72
  6. Torra R, Badenas C, Pérez-Oller L et al (2000) Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. Am J Kidney Dis 36:728-34 CrossRef
  7. Hateboer N, v Dijk MA, Bogdanova N et al (1999) Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 353:103-07
  8. The European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-94 CrossRef
  9. Hughes J, Ward CJ, Peral B et al (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10: 151-60 CrossRef
  10. Ong AC, Harris PC (2005) Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int 67:1234-247 CrossRef
  11. Vouk K, Strmecki L, Stekrova J et al (2006) PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease. BMC Med Genet 7:6 CrossRef
  12. Boucher C, Sandford R (2004) Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet 12:347-54 CrossRef
  13. Mirkin SM, Frank-Kamenetskii MD (1994) H-DNA and related structures. Annu Rev Biophys Biomol Struct 23:541-76 CrossRef
  14. Wu G, Somlo S (2000) Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. Mol Genet Metab 69:1-5 CrossRef
  15. Hayashi T, Mochizuki T, Reynolds DM et al (1997) Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44:131-36 CrossRef
  16. Harris PC, Rossetti S (2010) Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol 6:197-06 CrossRef
  17. Pei Y, Obaji J, Dupuis A et al (2009) Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 20:205-12 CrossRef
  18. Burke W (2002) Genetic testing. N Engl J Med 347:1867-875 CrossRef
  19. Perrichot RA, Mercier B, Simon PM et al (1999) DGGE / screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. Hum Genet 105: 231-39 CrossRef
  20. Perrichot R, Mercier B, Quere I et al (2000) Novel mutations in the duplicated region of PKD1 gene. Eur J Hum Genet 8:353-59 CrossRef
  21. Veldhuisen B, Saris JJ, de Haij S et al (1997) A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 61:547-55 CrossRef
  22. Watnick T, Germino GG (1999) Molecular basis of autosomal dominant polycystic kidney disease. Semin Nephrol 19:327-43
  23. Zhang S, Mei C, Zhang D et al (2005) Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese. Nephron Exp Nephrol 100:e63-6 CrossRef
  24. Rossetti S, Chauveau D, Walker D et al (2002) A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int 61:1588-599 CrossRef
  25. Herrmann MG, Durtschi JD, Bromley LK et al (2006) Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes. Clin Chem 52:494-03 CrossRef
  26. Wittwer CT, Reed GH, Gundry CN et al (2003) High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 49(6 Pt 1):853-60 CrossRef
  27. Erali M, Voelkerding KV, Wittwer CT (2008) High resolution melting applications for clinical laboratory medicine. Exp Mol Pathol 85:50-8 CrossRef
  28. Bataille S, Berland Y, Fontes M, Burtey S (2011) High Resolution Melt analysis for mutation / screening in PKD1 and PKD2. BMC Nephrol 12:57 CrossRef
  29. van der Stoep N, van Paridon CD, Janssens T et al (2009) Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 30:899-09 CrossRef
  30. Sinthuwiwat T, Poowasanpetch P, Wongngamrungroj A et al (2008) High-resolution melting curve analysis for genotyping of common SNP in MTHFR gene using fixed-cell suspension. Mol Cell Probes 22:329-32 CrossRef
  31. Wilson RK, Chen C, Avdalovic N et al (1990) Development of an automated procedure for fluorescent DNA sequencing. Genomics 6:626-34 CrossRef
  32. Tuohy MJ, Reja V, Park S et al (2010) Use of a high-resolution melt assay to characterize codon 54 of the cyp51A gene of Aspergillus fumigatus on a Rotor-Gene 6000 instrument. Antimicrob Agents Chemother 54:2248-251 CrossRef
  33. Wittwer CT (2009) High-resolution DNA melting analysis: advancements and limitations. Hum Mutat 30:857-59 CrossRef
  34. Vossen RH, Aten E, Roos A, den Dunnen JT (2009) High-resolution melting analysis (HRMA): more than just sequence variant / screening. Hum Mutat 30:860-66 CrossRef
  35. Chou LS, Lyon E, Wittwer CT (2005) A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol 124:330-38 CrossRef
  36. Reed GH, Wittwer CT (2004) Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin Chem 50:1748-754 CrossRef
  
• 作者单位：Grazia Maria Virzì (1) (2) (4)
  Alice Bruson (3)
  Valentina Corradi (1) (2)
  Massimo de Cal (1) (2)
  Fiorella Gastaldon (1)
  Dinna N. Cruz (1) (2)
  Maurizio Clementi (3)
  Claudio Ronco (1) (2)
  
  1. Dipartimento di Nefrologia, Dialisi e Trapianto Renale, Ospedale “San Bortolo- Vicenza, Italy
  2. IRRIV-International Renal Resarch Institute, Vicenza, Italy
  4. Dipartimento di Nefrologia, Dialisi e Trapianto Renale, Ospedale “San Bortolo- Via Rodolfi 37, 36100, Vicenza, Italy
  3. Dipartimento di Pediatria, Servizio di Genetica Clinica ed Epidemiologica, Università degli Studi di Padova, Padova, Italy
  
• ISSN：2039-6821

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