Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene

Journal of Molecular Endocrinology

Volumn 36, Issue 2, 2006, Pages 369-376

  Crépin, Michel ^a   Pigny, Pascal ^a,b   Escande, Fabienne ^a,b   Bauters, Catherine Cardot ^a   Calender, Alain ^c,d   Lefevre, Sylvain ^c   Buisine, Marie Pierre ^a,b   Porchet, Nicole ^a,b   Odou, Marie Françoise ^a,b  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIV LILLE   (France)

^c CNRS   (France)

^d Général du Groupe d'Etude des Tumeurs Endocrines GTE

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA FRAGMENT;

ARTICLE; BIOMEDICAL TECHNOLOGY ASSESSMENT; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC VALUE; DNA SEQUENCE; EXON; FALSE POSITIVE RESULT; GENE DELETION; GENE DUPLICATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GERM LINE; HUMAN; INTERMETHOD COMPARISON; LABORATORY AUTOMATION; MAJOR CLINICAL STUDY; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROCESS OPTIMIZATION; RELIABILITY; RETROSPECTIVE STUDY; RNA SPLICING; SENSITIVITY AND SPECIFICITY; TUMOR SUPPRESSOR GENE;

EID: 33646126511     PISSN: 09525041     EISSN: None     Source Type: Journal    
DOI: 10.1677/jme.1.01903     Document Type: Article

References (40)

1. Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF et al. 2004 Molecular pathology of the MEN1 gene. Annals of the New York Academy of Sciences 101 189-198.
2. Armour JA, Sismani C, Patsalis PC & Cross G 2000 Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Research 28 605-609.
3. Biasiotto G, Belloli S, Ruggeri G, Zanella I, Gerardi G, Corrado M, Gobbi E, Albertini A & Arosio P 2003 Identification of new mutations of the HFE, Hepcidin, and Transferrin Receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clinical Chemistry 49 1981-1988.
4. Cardinal JW, Bergman L, Hayward N, Sweet A, Warner J, Marks L, Learoyd D, Dwight T, Robinson B, Epstein M et al. 2005 A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. Journal of Medical Genetics 42 69-74.
5. Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T & Tosi M 2002 Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Human Mutation 20 218-226.
6. Chandrasekharappa S, Guru S, Manickam P, Olufemi S, Collins F, Emmert-Buck M, Debelenko L, Zhuang Z, Lubensky I, Liotta L et al. 1997 Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276 404-407.
7. Crépin M, Escande F, Pigny P, Buisine MP, Calender A, GENEM, Porchet N & Odou MF 2003 Efficient mutation detection in MEN1 gene using a combination of single-strand conformational polymorphism (MDGA™) and heteroduplex analysis. Electrophoresis 24 26-33.
8. Dehainault C, Laugé A, Caux-Moncoutier V, Pagès-Berhouet S, Doz F, Desjardins L, Couturier J, Gauthier-Villars M, Stoppa-Lyonnet D & Houdoyer C 2004 Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene. Nucleic Acids Research 32 e139.
9. Ellard S, Hattersley AT, Brewer CM & Vaidya B 2005 Detection of a MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clinical Endocrinology 62 169-175.
10. Emmerson P, Maynard J, Jones S, Butler R, Sampson JR & Cheadle JP 2003 Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Human Mutation 21 112-115.
11. Giraud S, Zhang CX, Serova-Sinilnikova O, Wautot V, Salandre J, Buisson N, Waterlot C, Bauters C, Porchet N, Aubert JP et al. 1998 Germ-line mutation analysis in patients with MEN1 and related disorders. American Journal of Human Genetics 63 455-467
12. Gross E, Kiechle M & Arnold N 1998 Mutation analysis of p53 in ovarian tumors by DHPLC. Journal of Biochemical and Biophysical Methods 47 73-81.
13. Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C & Cole DE 2003 Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium sensing receptor gene. Journal of Clinical Endocrinology and Metabolism 88 3674-3681.
14. Holinski-Feder E, Muller-Koch Y, Friedl W, Moeslein G, Keller G, Plaschke J, Ballhausen W, Gross M, Baldwin-Jedele K, Jungck M et al. 2003 DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) gene hMLH1 and hMSH2. Journal of Biochemical and Biophysical Methods 47 21-32.
15. Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, 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. Clinical Chemistry 45 1133-1140.
16. Klein B, Weirich G & Brauch H 2001 DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. Human Genetics 108 376-384.
17. Klein RD, Salih S, Bessoni J & Bale AE 2005 Clinical testing for Multiple Endocrine Neoplasia type 1 in a DNA diagnostic laboratory. Genetics in Medicine 7 131-138.
18. 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 Acids Research 26 1396-1400.
19. Lu C, Xu HM, Ren Q, Ao Y, Wang ZN, Ao X, Jiang L & Zhang X 2003 Somatic mutation analysis of p53 and ST7 tumor suppressor genes in gastric carcinoma by DHPLC. World Journal of Gastroenterology 9 2662-2665.
20. Marsh DJ, Theodosopoulos G, Howell V, Richardson AL, Benn DE, Proos AL, Eng C & Robinson BG 2001 Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high performance liquid chromatography. Neoplasia 3 236-244.
21. Marx SJ, Agarwal SK, Kester MB, Heppner C, Kim YS, Skarulis MC, James LA, Goldsmith PK, Saggar SK, Park SY et al. 1999 Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Recent Progress in Hormone Research 54 397-439.
22. Nedelcheva KV, Kelefiotis D, Kristensen T & Borresen-Dale AL 2001 High- throughput methods for detection of genetic variation. Biotechnigues 30 318-330.
23. O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhuyaya M, Sommer SS & McGuffin P 1998 Blind analysis of denaturing high performance liquid chromatography as a tool for mutation detection. Genomics 52 44-49.
24. Oefner PJ & Underhill PA 1998 DNA mutation detection using denaturing high performance liquid chromatography. In: Current protocols in human genetics pp 7.10:1-7.10.12. New York, Wiley.
25. Pannett AAJ & Thakker RV 1999 Multiple endocrine neoplasia type 1. Endocrine Related Cancer 6 449-473.
26. Pannett AAJ & Thakker RV 2001 Somatic mutations in MEN type 1 tumors consistent with the Knudson 'two-hit' hypothesis. Journal of Clinical Endocrinology and Metabolism 86 4371-4374.
27. Park JH, Kim IJ, Kang HC, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim SY et al. 2003 Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1- related disorders. Clinical Genetics 64 48-53.
28. Porchet N, Odou MF, Cardot-Bauters C, Quief S, Lignon S, Villenet C, Calender A, Pigny P & Kerkaert JP 2004 Characterization of MEN1 gene deletion by high resolution CGH microarray in a large MEN1 family. Journal of Internal Medicine 255 720.
29. Roberts PS, Jozwiak S, Kwiatkowski DJ & Dabora SL 2001 Denaturing high performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. Journal of Biochemical and Biophysical Methods 47 33-37.
30. Schollen E, Dequeker E, McQuaid S, Vankeirsbilck B, Michils G, Harvey J, Van den Akker E, Van Schooten R, Clark Z, Schrooten S et al. 2005 Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories. Human Mutation 25 583-592.
31. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F & Pals G 2002 Relative quantification of 40 nucleic acids sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Research 30 e57.
32. Schussheim D, Skarulis M, Agarval S, Simonds W, Leeburns A, Spiegel A & Marx S 2001 Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends in Endocrinology and Metabolism 12 173-178.
33. Sevilla C, Moatti JP, Julian-Reynier C, Eisinger F, Stoppa-Lyonnet D, Bressac-de Paillerets B & Sobol H 2002 Testing for BRCA1 mutations : a cost-effectiveness analysis European Journal of Human Genetics 10 599-606.
34. Takashima H, Boerkoel CF & Lupski JR 2001 Screening for mutations in a genetically heterogenous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genetics in Medicine 3 335-342.
35. Tchernitchko D, Lamoril J, Puy H, Robreau AM, Bogard C, Rosipal R, Gouya L, Deybach JC & Nordmann Y 1999 Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis. Clinical Chimica Acta 279 133-143.
36. The European Consortium On MEN 1. 1997 Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. Human Molecular Genetic 6 1177-1183.
37. Van den Bosch B, De Coo RFM, Scholte HR, Nijland JG, Van den Bogaard R, De Visser M, De Die-Smulders CEM & Smeets HJM 2000 Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Research 28 e89.
38. Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pages S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A et al. 1999 Denaturing high performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 15 369-376.
39. Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Beroud C & Calender A 2002 Germline mutation of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Human Mutation 20 35-47.
40. Xiao W & Oefner PJ 2001 Denaturing High performance Liquid Chromatography: a review. Human Mutation 17 439-474.