Multiplex ligation-dependent probe amplification identification of deletions and duplications of the duchenne muscular dystrophy gene in Taiwanese subjects

Journal of the Formosan Medical Association

Volumn 106, Issue 5, 2007, Pages 339-346

  Hwa, Hsiao Lin ^a,b   Chang, Yih Yuan ^c   Chen, Chung Hsiung ^c   Kao, Yen Shi ^c   Jong, Yuh Jyh ^d,e   Chao, Mei Chyn ^e   Ko, Tsang Ming ^a,c  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^c Genephile Bioscience Laboratory   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^e KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Deletion; DMD gene; Duchenne muscular dystrophy; Duplication; Multiplex ligation dependent probe amplification

Indexed keywords

ARTICLE; ASSAY; BECKER MUSCULAR DYSTROPHY; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; TAIWAN;

EID: 34250668773     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(09)60318-1     Document Type: Article

References (38)

1. Emery AE. Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord 1991; 1:19-29.
2. Prior TW, Bridgeman SJ. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 2005;7:317-26.
3. Mandel JL. Dystrophin. The gene and its product. Nature 1989;339:584-6.
4. Nishio H, Takeshima Y, Narita N, et al. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter. J Clin Invest 1994;94:1037-42.
5. Matsuo M. Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy. IUBMB Life 2002;53: 147-52.
6. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003; 2:731-40.
7. Koenig M, Hoffman EP, Bertelson CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
8. Forrest SM, Cross GS, Flint T, et al. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 1988;2:109-14.
9. Worton RG, Thompson MW. Genetics of Duchenne muscular dystrophy. Annu Rev Genet 1988;22:601-29.
10. 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;45:835-47.
11. Hu XY, Ray PN, Murphy EG, et al. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype-genotype correlation. Am J Hum Genet 1990;46:682-95.
12. White S, Kalf M, Liu Q, et al. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 2002;71:365-74.
13. Roberts RG, Bobrow M, Bentley DR. Point mutations in the dystrophin gene. Proc Natl Acad Sci USA 1992;89:2331-5.
14. El-Harouni AA, Amr KS, Effat LK, et al. The milder phenotype of the dystrophin 8ene double deletions. Acta Neurol Scand 2003; 107:400-4.
15. Chamberlain JS, (Gibbs RA, Ranier JE, et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;16: 11141-56.
16. Beggs AH, Koenig M, Boyce FM, et al. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-8.
17. Ried T, Mahler V, Vogt P, et al. Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/ Becker muscular dystrophy locus. Hum Genet 1990;85:581-6.
18. Yau SC, Bobrow M, Mathew CG. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996;33:550-8.
19. Joncourt F, Neuhaus B, Jostarndt-Foegen K, et al. Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum Mutat 2004;23:385-91.
20. Armour JA, Sismani C, Patsalis PC, et al. Measurement of locus copy number by hybridization with amplifiable probes. Nucleic Acids Res 2000;28:605-9.
21. White SJ, Sterrenburg E, van Ommen GJ, et al. An alternative to FISH: detecting deletion and duplication carriers within 24 hours. J Med Genet 2003;40:113.
22. Clemens PR, Fenwick RG, Chamberlain JS, et al. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 1991;49:951-60.
23. 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;117:92-8.
24. Janssen B, Hartmann C, Scholz V, et al. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pit-falls. Neurogenetics 2005;6:29-35.
25. 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; 39:367-72.
26. Schwartz M, Morten D. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification methods. Genet Test 2004; 8:361-7.
27. Lalic T, Vossen RH, Coffa J, et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005;13:1231-4.
28. Center for Human and Clinical Genetics, Leiden University Medical Center. Leiden muscular dystrophy pages. Available at: http://www.drnd.nl. Reviewed on October 20, 2006.
29. Lau YL, Srivastava G, Wong V, et al. Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies. Clin Genet 1992;41:252-8.
30. Lo IF, Lai KK, Tong TM, et al. A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy. Chin Med J 2006;119:1079-87.
31. Hu XY, Burghes AH, Bulman DE, et al. Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. Am J Hum Genet 1989;44: 855-63.
32. Robinson WP, Dutly F, Nicholls RD, et al. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 1998;35:130-6.
33. Potocki L, Chen KS, Park SS, et al. Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-7.
34. Önengüt S, Kavaslar GN, Battaloǧlu E, et al. Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians. Ann Hum Genet 2000;64:33-40.
35. Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004;23:413-9.
36. Yan J, Feng J, Buzin CH, et al. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat 2004;23:203-4.
37. Dent KM, Dunn DM, von Niederhausern AC, et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet 2005;134:295-8.
38. Hung CC, Su YN, Lin CY, et al. Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers. Clin Chem 2005; 51:1252-6.