Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families

Genetics and Molecular Research

Volumn 7, Issue 1, 2008, Pages 223-233

  Marzese, D M ^a   Mampel, A ^a   Gomez, L C ^a   Echeverria, M I ^a   Vargas, A L ^a   Ferreiro, V ^b   Giliberto, F ^b   Roque M ^a  

^a UNIVERSIDAD NACIONAL DE CUYO   (Argentina)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

Becker muscular dystrophy; Deletions duplications; Duchenne muscular dystrophy; Multiplex ligation dependent probe amplification

Indexed keywords

ANALYTIC METHOD; ARGENTINA; ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DUCHENNE MUSCULAR DYSTROPHY; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENE SEGREGATION; GENE SEQUENCE; HUMAN; MALE; MARKER GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; POLYMERASE CHAIN REACTION; TANDEM REPEAT;

EID: 42149120370     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/vol7-1gmr409     Document Type: Article

References (20)

1. Abbs S and Bobrow M (1993). Report on the 16th ENMC workshop - carrier diagnosis of Duchenne and Becker muscular dystrophy. Neuromuscul. Disord. 3: 241-242.
2. Beggs AH, Koenig M, Boyce FM and Kunkel LM (1990). Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum. Genet. 86: 45-48.
3. Bushby KM, Thambyayah M and Gardner-Medwin D (1991). Prevalence and incidence of Becker muscular dystrophy. Lancet 337: 1022-1024.
4. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, et al. (1988). Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 16: 11141-11156.
5. Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, et al. (1991). Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am. J. Hum. Genet. 49: 951-960.
6. Darras BT, Harper JF and Francke U (1987). Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. N. Engl. J. Med. 316: 985-992.
7. Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, et al. (1989). 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. 45: 835-847.
8. Den Dunnen JT, Grootscholten PM, Dauwerse JG, Walker AP, et al. (1992). Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination. Hum. Mol. Genet. 1: 19-28.
9. Ervasti JM and Campbell KP (1991). Membrane organization of the dystrophin-glycoprotein complex. Cell 66: 1121-1131.
10. Ervasti JM and Campbell KP (1993). A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J. Cell Biol. 122: 809-823.
11. Ferreiro V (2006). Polimorfismo del ADN: su aplicacion en el diagnostico de enfermedades geneticas. (Polymorphisms in DNA: applications in the diagnosis of genetic diseases). PhD thesis, Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica Catedra de Genetica y Biología Molecular, Buenos Aires.
12. Hoffman EP, Brown RH Jr and Kunkel LM (1987). Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51: 919-928.
13. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, et al. (1987). Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517.
14. Ligon AH, Kashork CD, Richards CS and Shaffer LG (2000). Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach. Eur. J. Hum. Genet. 8: 293-298.
15. Petrof BJ (1998). The molecular basis of activity-induced muscle injury in Duchenne muscular dystrophy. Mol. Cell Biochem. 179: 111-123.
16. Prior TW, Papp AC, Snyder PJ, Highsmith WE Jr, et al. (1990). Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides. Clin. Chem. 36: 2113-2117.
17. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, et al. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30: e57.
18. Sellner LN and Taylor GR (2004). MLPA and MAPH: new techniques for detection of gene deletions. Hum. Mutat. 23: 413-419.
19. Voskova-Goldman A, Peier A, Caskey CT, Richards CS, et al. (1997). DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions. Neurology 48: 1633-1638.
20. Yoshida M and Ozawa E (1990). Glycoprotein complex anchoring dystrophin to sarcolemma. J. Biochem. 108: 748-752.