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1、HRM文献（部分）归类n HRM技术文章Oliver Geulen, Christian Weilke, Michael Hoffmann.The LightCycler 480 real-time PCR system: a versatile platform for genetic variation research. Nature Methods 5, (29 February 2008) doi:10.1038/nmeth.f.207.The LightScanner System: Ultra Fast Mutation Discovery and Gene Scanning N
2、ature Methods Application Notes (2 May 2006) doi:10.1038/an1611.Erali M, Voelkerding KV, Wittwer CT. 2008. High resolution melting applications for clinical laboratory medicine. Exp Mol Pathol 85:5058.Farrar JS, Reed GH, Wittwer CT. 2009. High resolution melting curve analysis for molecular diagnosi
3、tics. In: Patrinos GP, Ansorge W, editors. Molecular Diagnostics, 2nd Ed. Burlington: Elsevier, in press.Gundry CN, Dobrowolski SF, Martin YR, Robbins TC, Nay LM, Boyd N, Coyne T, Wall MD, Wittwer CT, Teng DH. 2008. Base-pair neutral homozygotes can be discriminated by calibrated high-resolution mel
4、ting of small amplicons. Nucleic Acids Res 36:34013408.Herrmann MG, Durtschi JD, Bromley LK, Wittwer CT, Voelkerding KV. 2006. Amplicon DNA melting analysis for mutation scanning and genotyping: crossplatform comparison of instruments and dyes. Clin Chem 52:494503.Liew M, Pryor R, Palais R, Meadows
5、C, Erali M, Lyon E, Wittwer C. 2004. Genotyping of single-nucleotide polymorphisms by high-resolution melting ofsmall amplicons. Clin Chem 50:11561164.McKinney JT, Nay LM, De Koeyer D, Reed GH,Wall M, Palais RA, Jarret RL,Wittwer CT. 2009. Mutation scanning and genotyping in plants by high resolutio
6、n DNA melting. In: Meksem K, Kahl G, editors. The handbook of plant mutagenesis and mutant screening. Malden: Wiley-Blackwell-VCH, in press.Montgomery J, Wittwer CT, Kent JO, Zhou L. 2007. Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysi
7、s. Clin Chem 53:18911898. Nguyen-Dumont T, Le Calvez-Kelm F, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, De Silva D, Weigel R, Sangrajrang S, Lesueur F and others.2009. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting
8、 curve analysis. Hum Mutat 30:884890.Reed GH, Kent JO, Wittwer CT. 2007. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8:597608.Reed GH, Wittwer CT. 2004. Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution
9、 melting analysis. Clin Chem 50:17481754.Seipp MT, Durtschi JD, LiewMA,Williams J, Damjanovich K, Pont-Kingdon G, Lyon E, Voelkerding KV, Wittwer CT. 2007. Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting. J Mol Diagn 9:284289.Tindall EA, Petersen DC, Wo
10、odbridge P, Schipany K, Hayes VM. 2009. Assessing high resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments. Hum Mutat 30:876883.Vandersteen JG, Bayrak-Toydemir P, Palais RA, Wittwer CT. 2007. Identifying common genetic variants by high-resolution melting.
11、Clin Chem 53:11911198.Vossen RHAM, Emmelien A, Roos A, den Dunnen JT. 2009. High Resolution Melting Analysis (HRMA)more than just sequence variant screening. Hum Mutat 30:860866.Wittwer CT, Herrmann MG, Moss AA, Rasmussen RP. 1997. Continuous fluorescence monitoring of rapid cycle DNA amplification.
12、 Biotechniques 22:130131, 134138.Wittwer CT, Rasmussen RP, Ririe KM. 2009. Rapid PCR and melting analysis. In:Bustin SA, editor. The PCR Revolution. Cambridge: Cambridge University Press, in press.Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ. 2003. High-resolution genotyping by amplicon
13、melting analysis using LC Green. Clin Chem 49:853860.Zhou L, Errigo RJ, Lu H, Poritz MA, Seipp MT, Wittwer CT. 2008. Snapback primer genotyping with saturating DNA dye and melting analysis. Clin Chem 54:16481656.n HRM在SNP检测上应用van der Stoep N, van Paridon CDM, Janssens T, Krenkova P, Stambergova A, M
14、acek M, Matthijs G, Bakker E. 2009. Diagnostic guidelines for high resolution melting curve analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner (IT). Hum Mutat 30:899909.Chagn D, Gasic K, Crowhurst RN, Han Y, Bassett HC, Bowatte DR, Lawrence TJ, Rikkerin
15、k EH, Gardiner SE, Korban SS. Development of a set of SNP markers present in expressed genes of the apple. Genomics. 2008 Nov;92(5):353-8.De Leeneer K, Coene I, Poppe B, De Paepe A, Claes K. Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution
16、 melting platforms. Clin Chem. 2008;54(6):982-9.Takano EA, Mitchell G, Fox SB, Dobrovic A. Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis BMC Cancer. 2008;8:59.Dufresne SD, Belloni DR, Wells WA, Tsongalis GJ. BRCA1 and BRCA2 mutation screening using
17、 SmartCycler II high-resolution melt curve analysis. Arch Pathol Lab Med. 2006;130(2):185-7.Maltese P, Canestrari E, Palma L, Ruzzo A, Corini F, Menotta M, Andreoni F, Latiano A, Annese V, Magnani M. High resolution melting (HRM) analysis for the detection of ER22/23EK, BclI, and N363S polymorphisms
18、 of the glucocorticoid receptor gene. J Steroid Biochem Mol Biol. 2009 Feb;113(3-5):269-74.Pietzka AT, Indra A, Stger A, Zeinzinger J, Konrad M, Hasenberger P, Allerberger F, Ruppitsch W. Rapid identification of multidrug-resistant Mycobacterium tuberculosis isolates by rpoB gene scanning using high
19、-resolution melting curve PCR analysis. J Antimicrob Chemother. 2009 Jun;63(6):1121-7. Guan M, Zhang J, Chen Y, Liu W, Kong N, Zou H. High-resolution melting analysis for the rapid detection of an intronic single nucleotide polymorphism in SLC22A12 in male patients with primary gout in China. Scand
20、J Rheumatol. 2009 Mar 20:1-6.Muleo R, Colao MC, Miano D, Cirilli M, Intrieri MC, Baldoni L, Rugini E. Mutation scanning and genotyping by high-resolution DNA melting analysis in olive germplasm.2009 Mar;52(3):252-60.Norambuena PA, Copeland JA, Kenkov P, Stambergov A, Macek Jr M. Diagnostic method va
21、lidation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene. Clin Biochem. 2009 May 8. Epub ahead of printGarritano S, Gemignani F, Voegele C, Nguyen-Dumont T, Le Calvez-Kelm F, De Silva D, Lesueur F, Landi S, Tavtigian SV. Determining the eff
22、ectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC Genet. 2009 Feb 17;10:5Wu SB, Wirthensohn MG, Hunt P, Gibson JP, Sedgley M. High resolution melting analysis of almond SNPs derived from ESTs. Theor Appl Genet. 2008 Dec;118(1):1-14.Sinthuw
23、iwat T, Poowasanpetch P, Wongngamrungroj A, Promso S, Auewarakul C, Mooney S, Tocharoentanaphol C. High-resolution melting curve analysis for genotyping of common SNP in MTHFR gene using fixed-cell suspension. Mol Cell Probes. 2008;22(5-6):329-32.Lehmensiek A, Sutherland MW, McNamara RB. The use of
24、high resolution melting (HRM) to map single nucleotide polymorphism markers linked to a covered smut resistance gene in barley. Theor Appl Genet. 2008 Sep;117(5):721-8.de Juan I, Esteban E, Palanca S, Barragn E, Bolufer P. High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spani
25、sh mutations. Breast Cancer Res Treat. 2009 May;115(2):405-14.Kristensen LS, Dobrovic A. Direct genotyping of single nucleotide polymorphisms in methyl metabolism genes using probe-free high-resolution melting analysis. Cancer Epidemiol Biomarkers Prev. 2008;17(5):1240-7.Toi CS, Dwyer DE. Differenti
26、ation between vaccine and wild-type varicella-zoster virus genotypes by high-resolution melt analysis of single nucleotide polymorphisms. J Clin Virol. 2008 Sep;43(1):18-24.Grievink H, Stowell KM. Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using
27、 the LightCycler 480 System. Anal Biochem. 2008 15;374(2):396-404.Jeffery N, Gasser RB, Steer PA, Noormohammadi AH. Classification of Mycoplasma synoviae strains using single-strand conformation polymorphism and high-resolution melting-curve analysis of the vlhA gene single-copy region. Microbiology
28、. 2007 Aug;153(Pt 8):2679-88n 突变Dobrowolski SF, Ellingson CE, Caldovic L, Tuchman M. 2007.Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system. Hum Mutat 28:11331140.Dobrowolski SF, Gray J, Miller T, Sears M. 2009.
29、Identifying sequence variants in the human mitochondiral genome using high resolution melt profiling. Hum Mutat 30:891898.Kramer D, Thunnissen FB, Gallegos-Ruiz MI, Smit EF, Postmus PE, Meijer CJ, Snijders PJ, Heideman DA. A fast, sensitive and accurate high resolution melting (HRM) technology-based
30、 assay to screen for common K-ras mutations. Cell Oncol. 2009;31(3):161-7.Simi L, Pratesi N, Vignoli M, Sestini R, Cianchi F, Valanzano R, Nobili S, Mini E, Pazzagli M, Orlando C. High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancer. Am J
31、 Clin Pathol. 2008;130(2):247-53.Do H, Krypuy M, Mitchell PL, Fox SB, Dobrovic A. High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies. BMC Cancer. 2008.8:142.Krypuy M, Newnham GM, Thomas DM, Conron M, Dobrovic A. High
32、 resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer. BMC Cancer. 2006 Dec 21;6:295.Crook S, Seth R, Jackson D, Ilyas M.Concomitant mutations and splice variants in KRAS and BRAF demonstrate
33、complex perturbation of the Ras/Raf signalling pathway in Colorectal Cancer. Gut. 2009 May 26.Fukui T, Ohe Y, Tsuta K, Furuta K, Sakamoto H, Takano T, Nokihara H, Yamamoto N, Sekine I, Kunitoh H, Asamura H, Tsuchida T, Kaneko M, Kusumoto M, Yamamoto S, Yoshida T, Tamura T. Prospective study of the a
34、ccuracy of EGFR mutational analysis by high-resolution melting analysis in small samples obtained from patients with non-small cell lung cancer. Clin Cancer Res. 2008 Aug 1;14(15):4751-7.Smith GD, Chadwick BE, Willmore-Payne C, Bentz JS. Detection of epidermal growth factor receptor gene mutations i
35、n cytology specimens from patients with non-small cell lung cancer utilising high-resolution melting amplicon analysis. J Clin Pathol. 2008 Apr;61(4):487-93. Takano T, Ohe Y, Tsuta K, Fukui T, Sakamoto H, Yoshida T, Tateishi U, Nokihara H, Yamamoto N, Sekine I, Kunitoh H, Matsuno Y, Furuta K, Tamura
36、 T. Epidermal growth factor receptor mutation detection using high-resolution melting analysis predicts outcomes in patients with advanced non small cell lung cancer treated with gefitinib. Clin Cancer Res. 2007;13(18 Pt 1):5385-90.Nomoto K, Tsuta K, Takano T, Fukui T, Fukui T, Yokozawa K, Sakamoto
37、H, Yoshida T, Maeshima AM, Shibata T, Furuta K, Ohe Y, Matsuno Y. Detection of EGFR mutations in archived cytologic specimens of non-small cell lung cancer using high-resolution melting analysis. Am J Clin Pathol. 2006;126(4):608-15.Willmore-Payne C, Holden JA, Layfield LJ. Detection of epidermal gr
38、owth factor receptor and human epidermal growth factor receptor 2 activating mutations in lung adenocarcinoma by high-resolution melting amplicon analysis:correlation with gene copy number, protein expression, and hormone receptor expression. Hum Pathol. 2006;37(6):755-63.Willmore-Payne C, Holden JA
39、, Layfield LJ. Detection of EGFR- and HER2-activating mutations in squamous cell carcinoma involving the head and neck. Mod Pathol. 2006;19(5):634-40.Seth R, Keeley J, Abu-Ali G, Crook S, Jackson D, Ilyas M. The putative tumour modifier gene ATP5A1 is not mutated in Human Colorectal Cancer Cell line
40、s but expression levels correlate with TP53 mutations and Chromosomal Instability. J Clin Pathol. 2009Duno M, Quinlivan R, Vissing J, Schwartz M. High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease. Ann Hum Genet. 2009 May;73(Pt 3):292-7.Doi Y, Sasaki D, T
41、erada C, Mori S, Tsuruda K, Matsuo E, Miyazaki Y, Nagai K, Hasegawa H, Yanagihara K, Yamada Y, Kamihira S. High-resolution melting analysis for a reliable and two-step scanning of mutations in the tyrosine kinase domain of the chimerical bcr-abl gene. Int J Hematol. 2009 May 23. Epub ahead of printR
42、ouleau E, Lefol C, Bourdon V, Coulet F, Noguchi T, Soubrier F, Bieche I, Olschwang S, Sobol H, Lidereau R. 2009. qPCR HRM, a new approach to screen simultaneously point mutations and large rearrangementsApplication to MLH1 germline mutations in Lynch Syndrome. Hum Mutat 30:867875.Millat G, Chanavat
43、V, Julia S, Crehalet H, Bouvagnet P, Rousson R. Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. Clin Biochem. 2009 Jun;42(9):892-8. Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ,
44、Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, Zhao Y, LeDoux MS. High-throughput mutational analysis of TOR1A in primary dystonia. BMC Med Genet. 2009 Mar 11;10:24.Tindall EA, Petersen DC, Woodbridge P, Schipany K, Hayes VM. Assessing high-resolution melt curve analysis for a
45、ccurate detection of gene variants in complex DNA fragments. Hum Mutat. 2009n HRM甲基化方面的应用Wojdacz TK, Dobrovic A, Hansen LL. Methylation-sensitive high-resolution melting. Nature Protoc. 2008;3(12):1903-8. Balic M, Pichler M, Strutz J, Heitzer E, Ausch C, Samonigg H, Cote RJ, Dandachi N. High quality
46、 assessment of DNA methylation in archival tissues from colorectal cancer patients using quantitative high-resolution melting analysis. J Mol Diagn. 2009;11(2):102-8. Malentacchi F, Forni G, Vinci S, Orlando C. Quantitative evaluation of DNA methylation by optimization of a differential-high resolut
47、ion melt analysis protocol. Nucleic Acids Res. 2009 May 19. Epub ahead of print Wojdacz TK, Borgbo T, Hansen LL. Primer design versus PCR bias in methylation independent PCR amplifications. Epigenetics. 2009 May 14;4(4). Epub ahead of print Wojdacz TK, Dobrovic A. Methylation-sensitive high resoluti
48、on melting (MS-HRM): a new approach for sensitive and high-throughput assessment of methylation. Nucleic Acids Res. 2007;35(6):e41. Dahl C, Guldberg P. High-resolution melting for accurate assessment of DNA methylation. Clin Chem. 2007; 53(11):1877-8. Candiloro IL, Mikeska T, Hokland P, Dobrovic A. Rapid analysis of heterogeneously methylated DNA using digital methylation-sensitive high resolution melting: application to the CDKN2B (p15) gene. Epigenetics Chromatin. 2008;1(1):7.Alders M, Bliek J, vd Lip K, vd Bogaard R, Mannens M. Determination of KCNQ1OT1 and H19 methylatio