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Multiplex Amplifiable Probe Hybridization (MAPH)

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Molecular Biomethods Handbook

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References

  1. Battaglia A, Carey JC (1998) Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. Am J Med Genet 75:541

    Article  PubMed  CAS  Google Scholar 

  2. Donnai D, Karmiloff-Smith A (2000) Williams syndrome: from genotype through to the cognitive phenotype. Am J Med Genet 97:164–171

    Article  PubMed  CAS  Google Scholar 

  3. Cassidy SB, Dykens E, Williams CA (2000) Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 97:136–146

    Article  PubMed  CAS  Google Scholar 

  4. Knight SJ, Flint J (2000) Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 37:401–409

    Article  PubMed  CAS  Google Scholar 

  5. Patsalis PC, Evangelidou P, Charalambous S, Sismani C (2004) Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet 12:647–653

    Article  PubMed  CAS  Google Scholar 

  6. Kim J, Yu W, Kovalski K, Ossowski L (1998) Requirement for specific proteases in cancer cell intravasation as revealed by a novel semiquantitative PCR-based assay. Cell 94:353–362

    Article  PubMed  CAS  Google Scholar 

  7. Kalinina O, Lebedeva I, Brown J, Silver J (1997) Nanoliter scale PCR with TaqMan detection. Nucleic Acid Res 25:1999–2004

    Article  PubMed  CAS  Google Scholar 

  8. Kirchhoff M, Rose H, Lundsfeen C (2001) High resolution comparative genomic hybridisation in clinical cytogenefics. J Med Genet 38:740–744

    Article  PubMed  CAS  Google Scholar 

  9. Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, Law S, Myambo K, Palmer J, Ylstra B, Yue JP, Gray JW, Jain AN, Pinkel D, Albertson DG (2001) Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 29:263–264

    Article  PubMed  CAS  Google Scholar 

  10. Albertson DG, Pinkel D. (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12:145–152

    Article  Google Scholar 

  11. Kraus J, Pantel K, Pinkel D, Albertson DG, Speicher MR (2003) High-resolution genomic profiling of occult micrometastatic tumour cells. Genes Chromosomes Cancer 36:159–166

    Article  PubMed  CAS  Google Scholar 

  12. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP (2004) Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41:241–248

    Article  PubMed  CAS  Google Scholar 

  13. Ishkanian AS, Malloff CA, Watson SK et al (2004) A tiling resolution DNA micro-array with complete coverage of the human genome. Nat Genet 36:299–303

    Article  PubMed  CAS  Google Scholar 

  14. Lucito R, West J, Reiner A et al (2000) Detecting gene copy number fluctuations in tumor cells by microarray analysis of genomic representations. Genome Res 10: 1726–1736

    Article  PubMed  CAS  Google Scholar 

  15. Lucito R, Healy J, Alexander J et al (2003) Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. GenomeRes 13:2291–2305

    CAS  Google Scholar 

  16. Zhao X, Li C, Paez JG et al (2004) An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res 64:3060–3071

    Article  PubMed  CAS  Google Scholar 

  17. Huang J, Wei W, Zhang J et al (2004) Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genomics 1:287–299

    PubMed  CAS  Google Scholar 

  18. Selzer RR, Richmond TA, Pofahl NJ et al (2005) Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 44:305–319

    Article  PubMed  CAS  Google Scholar 

  19. Armour JAL, Sismani C, Patsalis PC, Cross G (2000) Measurements of locus copy number by hybridisation with amplifiable probes. Nucl Acids Res 28:605–609

    Article  PubMed  CAS  Google Scholar 

  20. Gibbons B, Datta P, Wu Y, Chan A, Armour J (2006) Microarray-MAPH: accurate array-based detection of relative copy number in genomic DNA. BMC Genomics 7:163

    Article  PubMed  Google Scholar 

  21. Patsalis PC, Kousoulidou L, Männik K, Sismani C, Žilina O, Parkel, S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A (2007) Detection of small genomic imbalances using microarray based Multiplex Amplifiable Probe Hybridization (array-MAPH). Eur J Hum Genet 15:162–172

    Article  PubMed  CAS  Google Scholar 

  22. Sismani C, Al Armour J, Flint J, Girgalli C, Regan R, Patsalis PC (2001) Screening for subtelomeric chromosomes abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay. Eur J Hum Genet 9:527–532

    Article  PubMed  CAS  Google Scholar 

  23. Hollox EJ, Atia T, Cross G, Parkin T, Armour JAL (2002) High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH). J Med Genet 39:790–795

    Article  PubMed  CAS  Google Scholar 

  24. Akrami SM, Winter RM, Brook JD, Armour JAL (2001) Detection of a large TBX5 deletion in a family with Holt-Oram syndrome. J Med Genet 38:44

    Article  Google Scholar 

  25. White SJ, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJB, Breuning MH, den Dunnen JT (2002) Comprehensive detection of genomic duplications and deletions in the dmd gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 71:365–374

    Article  PubMed  CAS  Google Scholar 

  26. White SJ, Sterrenburg E, van Ommen GJB, den Dunnen JT, Breuning MH (2003) An alternative to FISH: detecting deletion and duplication carriers within 24 hours. J Med Genet 40:1–5

    Article  Google Scholar 

  27. Dent KM, Dunn DM, Niederhausern AC, Aoyagi AT, Kerr L, Bromberg MB, Hart KJ, Tuohy T, White S, den Dunnen JT, Weiss RB, Flanigan KM (2005) Improved molecular diagnosis of dystrophinopathies in an unselect clinical cohort. Am J Med Genet 30:295–298

    Article  Google Scholar 

  28. Buzin CH, Feng J, Yan J, Scaringe W, Liu Q, den Dunnen J, Jerry Mendel JR, Sommer SS (2005) Mutation rates in the dystrophin gene: a hotspot of mutation at a GpG dinucleotide. Hum Mutat 25:177–188

    Article  PubMed  CAS  Google Scholar 

  29. Akrami SM, Rowland JS, Taylor GR, Armour JAL (2003) Diagnosis of gene dosage alterations at the PMP22 gene using MAPH. J Med Genet 40:123

    Article  Google Scholar 

  30. White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT (2005) Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. Hum Mutat 26:59

    Article  PubMed  Google Scholar 

  31. Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P et al (2006) Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinat-ing leukodystrophies. Ann Hum Genet 70:66–77

    Article  PubMed  CAS  Google Scholar 

  32. Combes P, Bonnet-Dupeyron MN, Gauther-Barichard F et al (2006) PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomy-elinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1. Neurogenetics 7:31–37 193

    Article  PubMed  CAS  Google Scholar 

  33. Rakha EA, Armour JAL, Pinder SE, Paish CE, Ellis IO (2005) High-resolution analysis of 16q22.1 in breast carcinoma using DNA amplifiable probes (multiplex amplifiable probe hybridization technique) and immunohistochemistry. Int J Cancer 114:720–729

    Article  PubMed  CAS  Google Scholar 

  34. Rad IA, Sharif AL, Raeburn JA, Evans G, Lalloo F, Morrison P, Armour JAL, Cross GS (2001) Detection of BRCA1 whole exon deletions andduplications in breast/ ovarian cancer families from UK by Multiplex Amplifiable Probe Hybridisation (MAPH). J Med Genet 38:S22

    Article  Google Scholar 

  35. Reid AG, Tarpey PS, Nacheva N (2003) High-resolution analysis of acquired genomic imbalances in bone marrow samples from chronic myeloid leukemia patients by use of multiple short DNA probes. Genes, Chromosomes Cancer 37: 282–290

    Article  PubMed  CAS  Google Scholar 

  36. Akrami SM, Dunlop MG, Farrington SM, Frayling IM, MacDonald F, Harvey JF, Armour JAL (2005) Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH. Fam Cancer 4:145–149

    Article  PubMed  CAS  Google Scholar 

  37. Sismani C (2003) Genetic factors in mental retardation. PhD Thesis, University of Nottingham

    Google Scholar 

  38. Pickard BS, Hollox EJ, Malloy MP, Porteous DJ, Blackwood DHR, Armour JAL, Muir WJ (2004) A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation. BMC Med Genet 5:21

    Article  PubMed  Google Scholar 

  39. Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KBM, Nijhuis JV, Bakker B, van Ommen GJB, den Dunnen JT, and Breuning MH (2004) Genomic imbalances in mental retardation. J Med Genet 41:249–255

    Article  PubMed  CAS  Google Scholar 

  40. Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJB, den Dunnen JT, Breuning MH (2006) Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations: detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet 14:180–189

    Article  PubMed  CAS  Google Scholar 

  41. Aldred MA, Sanford ROC, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RCM, Eng C, Dennis NR, Trembath RC (2004) Molecular analysis of 20 patients with 2q37.3 intervals monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet 41:433–439

    Article  PubMed  CAS  Google Scholar 

  42. Lucido R, Nakimura M, West JA, Han Y, Chin K, Jensen K, MacCombie R, Gray JW, Wigler M (1998) Genetic analysis using genomic representations. Proc Natl Acad Sci U S A 95:4487–4492

    Article  Google Scholar 

  43. Kennedy GC, Matzuzaki H, Dong C, Liu WM et al (2003) Large-scale genotyping of complex DNA. Nat Biotechnol 21:1233–1237

    Article  PubMed  CAS  Google Scholar 

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Sismani, C., Kousoulidou, L., Patsalis, P.C. (2008). Multiplex Amplifiable Probe Hybridization (MAPH). In: Walker, J.M., Rapley, R. (eds) Molecular Biomethods Handbook. Springer Protocols Handbooks. Humana Press. https://doi.org/10.1007/978-1-60327-375-6_13

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  • DOI: https://doi.org/10.1007/978-1-60327-375-6_13

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-60327-370-1

  • Online ISBN: 978-1-60327-375-6

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