Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy

Clinical Genetics

Volumn 67, Issue 2, 2005, Pages 189-191

  Schwartz, Marianne ^a   Duno M ^a  

^a Rigshospitalet   (Denmark)

Author keywords

BMD; DMD; MLPA; Mutation

Indexed keywords

ARTICLE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DUCHENNE MUSCULAR DYSTROPHY; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; INTERMETHOD COMPARISON; METHODOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; REAL TIME POLYMERASE CHAIN REACTION; RELIABILITY; SENSITIVITY ANALYSIS;

DNA; DYSTROPHIN; FEMALE; GENE DELETION; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 14244262802     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00382.x     Document Type: Article

References (15)

1. Worton RG, Thompson MW. Genetics of Duchenne muscular dystrophy. Annu Rev Genet 1988: 22: 601-629.
2. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. 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: 509-517.
3. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988: 2: 90-95.
4. Koenig M, Beggs AH, Moyer M et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989: 45: 498-506.
5. Gillard EF, Chamberlain JS, Murphy EG et al. Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet 1989: 45: 507-520.
6. 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.
7. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988: 16: 11141-11156.
8. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990: 86: 45-48.
9. Kunkel LM, Snyder JR, Beggs AH, Boyce FM, Feener CA. Searching for dystrophin gene deletions in patients with atypical presentations. In: Etiology of Human Diseases at the DNA Level (Lindsten J, Petterson U, eds). New York: Raven Press, 1991: 51-60.
10. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002: 30: e57.
11. Erlandson A, Samuelsson L, Hagberg B, Kyllerman M, Vujic M, Wahlstrom J. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test 2003: 7: 329-332.
12. Rooms L, Reyniers E, van Luijk R et al. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 2004: 23: 17-21.
13. Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 2003: 22: 428-433.
14. Montagna M, Dalla Palma M, Menin C et al. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 2003: 12: 1055-1061.
15. Hogervorst FB, Nederlof PM, Gille JJ et al. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 2003: 63: 1449-1453.