Rapid genetic analysis of X-linked chronic granulomatous disease by high-resolution melting

Journal of Molecular Diagnostics

Volumn 12, Issue 3, 2010, Pages 368-376

  Hill, Harry R ^a,b   Augustine, Nancy H ^a   Pryor, Robert J ^a   Reed, Gudrun H ^a   Bagnato, Joshua D ^c   Tebo, Anne E ^a,b   Bender, Jeffrey M ^a   Pasi, Brian M ^b   Chinen, Javier ^d   Hanson, I Celine ^d   De Boer, Martin ^e   Roos, Dirk ^e   Wittwer, Carl T ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c Idaho Technology Inc   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; OXIDOREDUCTASE;

ARTICLE; ENZYME ACTIVITY; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GRANULOMATOSIS; HETEROZYGOSITY; HUMAN; INTRON; MALE; NEUTROPHIL; X CHROMOSOME LINKAGE;

EID: 77951732923     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.090147     Document Type: Article

References (47)

1. Bridges RA, Berendes H, Good RA: A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome. AMA J Dis Child 1959, 97:387-408
2. Segal AW, Peters TJ: Characterization of the enzyme defect in chronic granulomatous disease. Lancet 1976, 1:1363-1365
3. Roos D, Kuijpers TW, Curnutte JT: Chronic granulomatous disease. Primary Immunodeficiency Diseases. Edited by Ochs HD, Smith CIE, Puck JM. New York, Oxford University Press, 2006, pp. 525-549
4. Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H: Chronic granulomatous disease. Report on a national registry of 368 patients Medicine (Baltimore) 2000, 79:155-169
5. Quie PG, White JG, Holmes B, Good RA: In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood. J Clin Invest 1967, 46:668-679
6. Johnston RB Jr: Clinical aspects of chronic granulomatous disease. Curr Opin Hematol 2001, 8:17-22 (Pubitemid 32047657)
7. van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, Español T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW: Chronic granulomatous disease: the European experience. PLoS ONE 2009, 4:e5234
8. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM: Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 2000, 79:170-200 (Pubitemid 30327531)
9. Rothe G, Emmendorffer A, Oser A, Roesler J, Valet G: Flow cytometric measurement of the respiratory burst activity of phagocytes using dihydrorhodamine 123. J Immunol Methods 1991, 138:133-135
10. Heyworth PG, Curnutte JT, Rae J, Noack D, Roos D, van Koppen E, Cross AR: Hematologically important mutations: X-linked chronic granulomatous disease (second update). Blood Cells Mol Dis 2001, 27:16-26 (Pubitemid 32299750)
11. Jirapongsananuruk O, Niemela JE, Malech HL, Fleisher TA: CYBB mutation analysis in X-linked chronic granulomatous disease. Clin Immunol 2002, 104:73-76 (Pubitemid 34856511)
12. Roos D, de Boer M, Borregard N, Bjerrum OW, Valerius NH, Seger RA, Mühlebach T, Belohradsky BH, Weening RS: Chronic granulomatous disease with partial deficiency of cytochrome b558 and incomplete respiratory burst: variants of the X-linked, cytochrome b558-negative form of the disease. J Leukoc Biol 1992, 51:164-171
13. Stasia MJ, Li XJ: Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol 2008, 30:209-235
14. Roos D, de Boer M, Köker MY, Dekker J, Singh-Gupta V, Ahlin A, Palmblad J, Sanal O, Kurenko-Deptuch M, Jolles S, Wolach B: Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase. Hum Mutat 2006, 27:1218-1229 (Pubitemid 44749724)
15. van Pelt LJ, van Zwieten R, Weening RS, Roos D, Verhoeven AJ, Bolscher BG: Limitations on the use of dihydrorhodamine 123 for flow cytometric analysis of the neutrophil respiratory burst. J Immunol Methods 1996, 191:187-196 (Pubitemid 26174816)
16. Yu G, Hong DK, Dionis KY, Rae J, Heyworth PG, Curnutte JT, Lewis DB: Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. Clin Immunol 2008, 128:117-126 (Pubitemid 351952484)
17. Seger RA: Modern management of chronic granulomatous disease. Br J Haematol 2008, 140:255-266
18. Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, Gougerot-Pocidalo MA, Elbim C, Grandchamp B: Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations. Hum Mutat 2008, 29:E132-E149
19. Köker MY, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D: Mutations of chronic granulomatous disease in Turkish families. Eur J Clin Invest 2007, 37:589-595 (Pubitemid 46920198)
20. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H: Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 1996, 87:1663-1681 (Pubitemid 26068882)
21. Patiño PJ, Perez JE, Lopez JA, Condino-Neto A, Grumach AS, Botero JH, Curnutte JT, García de Olarte D: Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. Hum Mutat 1999, 13:29-37
22. Di Matteo G, Giordani L, Finocchi A, Ventura A, Chiriaco M, Blancato J, Sinibaldi C, Plebani A, Soresina A, Pignata C, Dellepiane RM, Trizzino A, Cossu F, Rondelli R, Rossi P, De Mattia D, Martire B, IPINET (Italian Network for Primary Immunodeficiencies): Molecular characterization of a large cohort of patients with chronic granulomatous disease and identification of novel CYBB mutations: an Italian multicenter study. Mol Immunol 2009, 46:1935-1941
23. Erali M, Voelkerding KV, Wittwer CT: High resolution melting applications for clinical laboratory medicine. Exp Mol Pathol 2008, 85:50-58
24. Reed GH, Kent JO, Wittwer CT: High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 2007, 8:597-608 (Pubitemid 46939585)
25. Reed GH, Wittwer CT: Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin Chem 2004, 50:1748-1754
26. Bennett CD, Campbell MN, Cook CJ, Eyre DJ, Nay LM, Nielsen DR, Rasmussen RP, Bernard PS: The LightTyper: high-throughput genotyping using fluorescent melting curve analysis. Biotechniques 2003, 34:1288-1292, 1294-11285
27. Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ: High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 2003, 49:853-860
28. Palais R, Wittwer CT: Mathematical algorithms for high-resolution DNA melting analysis. Methods Enzymol 2009, 454:323-343
29. Poland D: Recursion relation generation of probability profiles for specific-sequence macromolecules with long-range correlations. Biopolymers 1974, 13:1859-1871
30. Fixman M, Freire JJ: Theory of DNA melting curves. Biopolymers 1977, 16:2693-2704
31. Steger G: Thermal denaturation of double-stranded nucleic acids: prediction of temperatures critical for gradient gel electrophoresis and polymerase chain reaction. Nucleic Acids Res 1994, 22:2760-2768
32. Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, Curnutte JT: X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet 1998, 62:1320-1331 (Pubitemid 28307101)
33. Roesler J, Heyden S, Burdelski M, Schäfer H, Kreth HW, Lehmann R, Paul D, Marzahn J, Gahr M, Rösen-Wolff A: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. Exp Hematol 1999, 27:505-511 (Pubitemid 29125059)
34. Bender JM, Rand TH, Ampofo K, Pavia AT, Schober M, Tebo A, Pasi B, Augustine NH, Pryor RJ, Wittwer CT, Hill HR: Family clusters of variant X-linked chronic granulomatous disease. Pediatr Infect Dis J 2009, 28:529-533
35. Vossen RH, Aten E, Roos A, den Dunnen JT: High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat 2009, 30:860-866
36. Herrmann MG, Durtschi JD, Bromley LK, Wittwer CT, Voelkerding KV: Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes. Clin Chem 2006, 52:494-503 (Pubitemid 43306475)
37. Dujols VE, Kusukawa N, McKinney JT, Dobrowolski SF, Wittwer CT: High-resolution melting analysis for scanning and genotyping. Real-Time PCR. Edited by Dorak MT. New York, Garland Science, 2006, pp. 157-171
38. Seipp MT, Durtschi JD, Voelkerding KV, Wittwer CT: Multiplex amplicon genotyping by high-resolution melting. J Biomol Tech 2009, 20:160-164
39. van der Stoep N, van Paridon CD, Janssens T, Krenkova P, Stambergova A, Macek M, Matthijs G, Bakker E: Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 2009, 30:899-909
40. Montgomery J, Wittwer CT, Kent JO, Zhou L: Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis. Clin Chem 2007, 53:1891-1898 (Pubitemid 350036032)
41. Dobrowolski SF, Ellingson CE, Caldovic L, Tuchman M: Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system. Hum Mutat 2007, 28:1133-1140 (Pubitemid 350036918)
42. Vandersteen JG, Bayrak-Toydemir P, Palais RA, Wittwer CT: Identifying common genetic variants by high-resolution melting. Clin Chem 2007, 53:1191-1198 (Pubitemid 47020973)
43. Wittwer CT: High-resolution DNA melting analysis: advancements and limitations. Hum Mutat 2009, 30:857-859
44. Dobrowolski SF, Gray J, Miller T, Sears M: Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling. Hum Mutat 2009, 30:891-898
45. Rasmussen JP, Saint CP, Monis PT: Use of DNA melting simulation software for in silico diagnostic assay design: targeting regions with complex melting curves and confirmation by real-time PCR using intercalating dyes. BMC Bioinformatics 2007, 8:107
46. Schapiro BL, Newburger PE, Klempner MS, Dinauer MC: Chronic granulomatous disease presenting in a 69-year-old man. N Engl J Med 1991, 325:1786-1790
47. Foster CB, Lehrnbecher T, Mol F, Steinberg SM, Venzon DJ, Walsh TJ, Noack D, Rae J, Winkelstein JA, Curnutte JT, Chanock SJ: Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J Clin Invest 1998, 102:2146-2155 (Pubitemid 29018821)