DNA and RNA analyses in detection of genetic predisposition to cancer
Tài liệu tham khảo
Lubiński J, Górski B, Kurzawski G, Jakubowska A, Cybulski C, Suchy J, Debniak T, Grabowska E, Lener M, Nej K: Molecular basis of inherited predispositions for tumors. Acta Biochim Pol 2002, 49: 571–581.
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polimorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989, 86: 2766–2770. 10.1073/pnas.86.8.2766
Nagamine CM, Chan K, Lau YFCA: A PCR artifact: generation of heteroduplexes. Am J Hum Genet 1989, 45: 337–339.
Cotton RG, Rodrigues NR, Campbell RD: Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 1988, 85: 4397–4401. 10.1073/pnas.85.12.4397
O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer SS, McGuffin P: Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 1998, 52: 44–49. 10.1006/geno.1998.5411
Myers RM, Maniatis T, Lerman LS: Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987, 155: 501–527. full_text
Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD: Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 1998, 26: 1396–1400. 10.1093/nar/26.6.1396
Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, O'Donovan MC: Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 1999, 45: 1133–1140.
Arnold N, Gross E, Schwarz-Boeger U, Pfisterer J, Jonat W, Kiechle M: A highly sensitive, fast and economical technique for mutation analysis in hereditary breast and ovarian cancers. Hum Mutat 1999, 14: 333–339. 10.1002/(SICI)1098-1004(199910)14:4<333::AID-HUMU9>3.0.CO;2-C
Gross E, Arnold N, Goette J, Schwarz-Boeger U, Kiechle M: A comparison of BRCA1 mutations analysis by direct sequencing, SSCP and DHPLC. Hum Genet 1999, 105: 72–78. 10.1007/s004390051066
Xiao W, Oefner PJ: Denaturing high-performance liquid chromatography: A review. Hum Mutat 2001, 17: 439–474. 10.1002/humu.1130
Kurzawski G, Safranow K, Suchy J, Chlubek D, Scott RJ, Lubiński J: Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography. J Biochem Biophys Methods 2002, 51: 89–100. 10.1016/S0165-022X(02)00003-9
Rosenthal A, Charnock-Jones DS: New protocols for sequencing with dye terminators. DNA Seq 1992, 3: 61–64. 10.3109/10425179209039697
Ronaghi M, Karamohamed S, Pettersson B, Uhlén M, Nyrén P: Real-time DNA sequencing using detection of pyrophosphate release. Anal Biochem 1996, 242: 84–90. 10.1006/abio.1996.0432
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30: e57. 10.1093/nar/gnf056
Chomczynski P, Sacchi N: Single step method of RNA isolation by acid guanidinum thiocyanate-phenol-chloroform extraction. Anal Biochem 1987, 162: 156–159. 10.1016/0003-2697(87)90021-2
Luce MC, Marra G, Chauhan DP, Laghi L, Carethers JM, Cherian SP, Hawn M, Binnie CG, Kam-Morgan LNW, Cayouette MC, Koi M, Boland CR: In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology 1995, 109: 1368–1374. 10.1016/0016-5085(95)90600-2
Plumer SJ, Casey G: Are we closer to genetic testing for common malignances? Nat Med 1996, 2: 156–158. 10.1038/nm0296-156
Kurzawski G, Suchy J, Kładny J, Safranow K, Jakubowska A, Elsakov P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Jawień A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki PE, Moeslein G, Lubiński J: Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. J Med Genet 2002, 39: E65. 10.1136/jmg.39.10.e65
Cybulski C, Krzystolik K, Murgia A, Górski B, Dębniak T, Jakubowska A, Martella M, Kurzawski G, Prost M, Kojder I, Limon J, Nowacki P, Sagan L, Białas B, Kałuża J, Zdunek M, Omulecka A, Jaskólski D, Kostyk E, Koraszewska-Matuszewska B, Haus O, Janiszewska H, Pecold K, Starzycka M, Słomski R, Cwirko M, Sikorski A, Gliniewicz B, Cyrylowski L, Fiszer-Maliszewska L, Gronwald J, Tołoczko-Grabarek A, Zajączek S, Lubiński J: Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. J Med Genet 2002, 39: E38. 10.1136/jmg.39.7.e38
Górski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzanska A, Bębenek M, Fischer-Maliszewska L, Grzybowska E, Narod SA, Lubiński J: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 2000, 66: 1963–1968. 10.1086/302922
Heied CA, Stevens J, Livak KJ, Williams PM: Real time quantitative PCR. Genome Res 1996, 6: 986–994. 10.1101/gr.6.10.986
Matsubara Y, Fujii K, Rinaldo P, Narisawa K: A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders. Acta Paediatr Suppl 1999, 88: 65–68. 10.1080/080352599750029420