Multiplex ligation-dependent probe amplification and its application

Chinese Journal of Medical Genetics

Volumn 26, Issue 1, 2009, Pages 45-49

  Zhou, Da Wen ^a   Ren, Zhao Rui ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Capillary electrophoresis; Chip; Multiplex ligation dependent probe amplification

Indexed keywords

OLIGONUCLEOTIDE;

BECKER MUSCULAR DYSTROPHY; BECKWITH WIEDEMANN SYNDROME; COLORECTAL CANCER; COMPARATIVE GENOMIC HYBRIDIZATION; DUCHENNE MUSCULAR DYSTROPHY; FLUORESCENCE IN SITU HYBRIDIZATION; HAPPY PUPPET SYNDROME; METHYLATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; REVERSE TRANSCRIPTION; REVIEW; SAMPLE; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM;

DNA METHYLATION; DNA PROBES; HUMANS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 60549091924     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2009.01.010     Document Type: Review

References (55)

1. Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res, 2002, 30: e57.
2. Lai KK, Lo IF, Tong TM, et al. Detecting exon deletions and duplications of the DMD gene using multiplex ligation-dependent probe amplification (MLPA). Clin Biochem, 2006, 39: 367-372.
3. Fredman D, White SJ, Potter S, et al. Complex SNP-related sequence variation in segmental genome duplications. Nat Genet, 2004, 36: 861-866.
4. Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science, 2004, 305: 525-528.
5. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature, 2006, 444: 444-454.
6. Flint J, Wilkie AO, Buchle VJ, et al. The Detection of subtelomeric chromosomal rearrangements inidiopathic mental retardation. Nat Genet, 1995, 9: 132-140.
7. Petrij-Bosch A, Peelen T, Van Vliet M, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet, 1997, 17: 341-345.
8. Flint J, Knight S. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev, 2003, 13: 310-316.
9. Sharp AJ, Hansen S, Selzer RR, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet, 2006, 38: 1038-1042.
10. Wijnen J, van der Klift H, Vasen H, et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet, 1998, 20: 326-328.
11. Zhang J, Lindroos A, Ollila S, et al. Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers. Cancer Res, 2006, 66: 659-664.
12. Bertucci F, Borie N, Ginestier C, et al. Identification and validation of an ERBB2 gene expression signature in breast cancers. Oncogene, 2004, 23: 2564-2575.
13. Pastrello C, Baglioni S, Tibiletti MG, et al. Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Eur J Hum Genet, 2006, 14: 63-68.
14. Baudhuin LM, Mai M, French AJ, et al. Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods. J Mol Diagn, 2005, 7: 226-235.
15. Takata M, Suzuki T, Ansai S, et al. Genome profiling of melanocytic tumors using multiplex ligation-dependent probe amplification (MLPA): its usefulness as an adjunctive diagnostic tool for melanocytic tumors. J Dermatol Sci, 2005, 40: 51-57.
16. Martinez-Glez V, Franco-Hemdndez C, Lomas J, et al. Multiplex ligation-dependent probe amplification (MLPA) screening in meningioma. Cancer Genet Cytogenet, 2007, 173: 170-172.
17. Worsham MJ, Pals G, Schouten JP, et al. Delineating genetic pathways of disease progression in head and neck squamous cell carcinoma. Arch Otolaryngol Head Neck Surg, 2003, 129: 702-708.
18. Emery AE. Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord, 1991, 1: 19-29.
19. den Dunnen JT, Grootscholten PM, Bakker E, et al. Topography of the Duchenne muscular dystrophy (DMD) gene-FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet, 1989, 45: 835-847.
20. Lai KK, Lo IF, Tong TM, et al. Detecting exon deletions and duplications of the DMD gene using multiplex ligation-dependent probe amplification (MLPA). Clin Biochem, 2006, 39: 367-372.
21. Lalic T, Vossen RH, Cofa J, et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet, 2005, 13: 1231-1234.
22. Gatta V, Scarciolla O, Gaspari AR, et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet, 2005, 117: 92-98.
23. Huang CH, Chang YY, Chen CH, et al. Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification. Genet Med, 2007, 9: 241-248.
24. Hassold T, Hunt PA, Sherman S. Trisomy in human: incidence, origin and etiology. Curr Opin Genet Dev, 1993, 3: 398-403.
25. Ward BE, Gersen SL, Carelli MP, et al. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4500 specimens. Am J Hum Genet, 1993, 52: 854-865.
26. Gerdes T, Kirehhof M, Lind AM, et al. Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplif cation (MLPA). Eur J Hum Genet, 2005, 13: 171-175.
27. Ramsden SC, Mann K, McConnell C, et al. External quality assessment of rapid prenatal detection of numerical chromosomal aberations using molecular genetic techniques: 3 years experience. Prenat Diagn, 2007, 27: 404-408.
28. Sotillo R, Hernando E, Díaz-Rodríguez E, et al. Mad2 overexpression promotes aneuploidy and tumorigenesis in mice. Cancer Cell, 2007, 11: 9-23.
29. Weaver BA, Silk AD, Montagna C, et al. Aneuploidy acts both oncogenically and as a tumor suppressor. Cancer Cell, 2007, 11: 25-36.
30. Vanoverveld PG, Lemmers RJ, Deidda G, et al. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet, 2000, 9: 2879-2884.
31. Mefford H C, Linardopoulou E, Coil D, et al. Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes. Hum Mol Genet, 2001, 10: 2363-2372.
32. Monfort S, Orellana C, Oltra S, et al. Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements. J Lab Clin Med, 2006, 147: 295-300.
33. Lam AC, Lam ST, Lai KK, et al. High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation. Clin Biochem, 2006, 39: 196-202.
34. Kirehhof M, Bisgaard AM, Bryndorf T, et al. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients tll mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet, 2007, 50: 33-42.
35. Slater H, Bruno D, Ren H, et al. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum Mutat, 2004, 24: 164-171.
36. Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, et al. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated th subtelomeric 6p deletion. Eur J Med Genet, 2007, 5: 120-127.
37. Sivertsen A, Lie RT, Wilcox AJ, et al. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a populationbased sample of infants with cleft palate. Am J Med Genet A, 2007, 143: 129-134.
38. Eldering E, Spek CA, Aberson HL, et al. Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signaling pathways. Nucleic Acids Res, 2003, 31: e153.
39. Spek CA, Verbon A, Aberson H, et al. Treatment with an anti-CD14 monoclonal antibody delays and inhibits lipopolysaccharide-induced gene expression in humans in vivo. J Clin Immunol, 2003, 23: 132-140.
40. Nygren AO, Ameziane N, Duarte HM, et al. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res, 2005, 33: e128.
41. Henken FE, Wilting SM, Overmeer RM, et al. Sequential gene promoter methylation during HPV-induced cervical carcinogenesis. Br J Cancer, 2007, 97: 1457-1464.
42. Takata M, Lin J, Takayanagi S, et al. Genetic and epigenetic alterations in the differential diagnosis of malignant melanoma and spitzoid lesion. Br J Dermatol, 2007, 156: 1287-1294.
43. Dikow N, Nygren AO, Schouten JP, et al. Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA. Mol Cel Probes, 2007, 21: 208-215.
44. Procter M, Chou LS, Tang W, et al. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem, 2006, 52: 1276-1283.
45. Priolo M, Sparago A, Mammì C, et al. MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment. Eur J Hum Genet, 2008, 16: 565-571.
46. White SJ, Vink GR, Kriek M, et al. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat, 2004, 24: 86-92.
47. van Beuningen R, van Damme H, Boender P, et al. Fast and specific hybridisation using flow-through microarrays on porous metal oxide. Clin Chem, 2001, 47: 1931-1933.
48. Wu Y, de Kievit P, Vahlkamp L, et al. Quantitative assessment of a novel flow-through porous microarray for the rapid analysis of gene expression profiles. Nucleic Acids Res, 2004, 32: e123.
49. Zeng FY, Ren ZR, Huang SZ, et al. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat, 2008, 29: 190-197.
50. Hochstenbach R, Meijer J, van de Brug J, et al. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn, 2005, 25: 1032-1039.
51. Evans MI, Henry GP, Miller WA, et al. International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in situ hybridization are used. Hum Reprod, 1999, 14: 1213-1216.
52. Lewin P, Kleinfinger P, Bazin A, et al. Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27 407 prenatal diagnoses. Prenat Diagn, 2000, 20: 1-6.
53. Thein ATA, Abdel-Fattah SA, Kyle PM, et al. An assessment of the use of interphase FISH with chromosome specific probes as an alternative to cytogenetics in prenatal diagnosis. Prenat Diagn, 2000, 20: 275-280.
54. Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science, 1992, 258: 818-821.
55. Sebat J, Lakshmi B, Troqe J, et al. Large-scale copy number polymorphism in the human genome. Science, 2004, 305: 525-528.