Multiplex amplifiable probe hybridization (MAPH)

Molecular Biomethods Handbook: Second Edition

Volumn , Issue , 2008, Pages 179-193

  Sismani, Carolina ^a   Kousoulidou, Ludmila ^a   Patsalis, Philippos C ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84900289341     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-60327-375-6_13     Document Type: Chapter

References (43)

1. Battaglia A, Carey JC (1998) Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome. Am J Med Genet 75:541
2. Donnai D, Karmiloff-Smith A (2000) Williams syndrome: from genotype through to the cognitive phenotype. Am J Med Genet 97:164-171
3. Cassidy SB, Dykens E, Williams CA (2000) Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 97:136-146
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
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
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
7. Kalinina O, Lebedeva I, Brown J, Silver J (1997) Nanoliter scale PCR with TaqMan detection. Nucleic Acid Res 25:1999-2004
8. Kirchhoff M, Rose H, Lundsfeen C (2001) High resolution comparative genomic hybridisation in clinical cytogenefics. J Med Genet 38:740-744
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
10. Albertson DG, Pinkel D. (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12:145-152
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
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
13. Ishkanian AS, Malloff CA, Watson SK et al (2004) A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303
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
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
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
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
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
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
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
21. Patsalis PC, Kousoulidou L, Mnnik K, Sismani C, ilina O, Parkel, S, Puusepp H, Tnisson 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
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
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
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
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
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
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
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
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
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
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 hypomyelinating leukodystrophies. Ann Hum Genet 70:66-77
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 hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1. Neurogenetics 7:31-37
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
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
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
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
37. Sismani C (2003) Genetic factors in mental retardation. PhD Thesis, University of Nottingham
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
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
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
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
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
43. Kennedy GC, Matzuzaki H, Dong C, Liu WM et al (2003) Large-scale genotyping of complex DNA. Nat Biotechnol 21:1233-1237