Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families

Muscle and Nerve

Volumn 43, Issue 4, 2011, Pages 510-517

  Giliberto, Florencia ^a   Ferreiro, Verónica ^b   Massot, Francisco ^a   Ferrer, Marcela ^b   Francipane, Liliana ^b   Szijan, Irene ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b HOSPITAL DE CLÍNICAS JOSÉ DE SAN MARTÍN   (Argentina)

Author keywords

Duchenne muscular dystrophy; Haplotype analysis; Prenatal diagnosis; Segregation analysis; STR (short tandem repeat)

Indexed keywords

DYSTROPHIN; MICROSATELLITE DNA;

ARGENTINA; ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; FETUS; GENE DELETION; GENE MUTATION; GENETIC RECOMBINATION; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HUMAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SHORT TANDEM REPEAT; COMPARATIVE STUDY; GENETICS; HAPLOTYPE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROCEDURES;

ARGENTINA; DYSTROPHIN; FEMALE; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 79953054039     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21904     Document Type: Article

References (30)

1. Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 1935;31:317-326.
2. Caskey CT, Nussbaum RL, Cohan LC, Pollack L. Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation. Clin Genet 1980;18:329-341. (Pubitemid 11253838)
3. Moser H. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet 1984;66:17-40. (Pubitemid 14159042)
4. Emery AEH. Muscle histology and creatine kinase levels in the fetus in Duchenne muscular dystrophy. Nature 1977;266:472-473. (Pubitemid 8067233)
5. Center for Human and Clinical Genetics, Leiden University Medical Center Leiden muscular dystrophy [online]. Available from URL: http://www.dmd.nl
6. Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996;33:550-558. (Pubitemid 26232396)
7. White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, 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;71:367-374.
8. Joncourt F, Neuhaus B, Jostarndt-Foegen K, Kleinle S, Steiner B, Gallati S. Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum Mutat 2004;23:385-391. (Pubitemid 38461520)
9. Frisso G, Carsana A, Tinto N, Calcagno G, Salvatore F, Sacchetti L. Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. Clin Chem 2004;50:1435-1438. (Pubitemid 38970659)
10. Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 2003;72:931-939. (Pubitemid 36403311)
11. Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, De Andrade M, et al. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 1991;49:951-960. (Pubitemid 21891741)
12. Feener CA, Boyce FM, Kunkel LM. Rapid detection of CA polymorphisms in cloned DNA: application to the 5′ region of the dystrophin gene. Am J Hum Genet 1991;48:621-627. (Pubitemid 21903061)
13. Shiroshita Y, Katayama S. Prenatal diagnosis of Duchenne muscular dystrophy in the Japanese population by fluorescent CA repeat polymorphism analysis. J Obstet Gynaecol Res 1997;23:453-461. (Pubitemid 27478580)
14. Ferreiro V, Giliberto F, Francipane L, Szijan I. The role of polymorphic short tandem (CA)(n) repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis. Mol Diagn 2005;9:67-80. (Pubitemid 43066360)
15. Murray MG, Thompson WF. Rapid isolation of high-molecularweight plant DNA. Nucl Acids Res 1980;8:4321-4325.
16. Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, editors. PCR protocols: a guide to methods and applications.San Diego, CA:Academic Press; 1990. p 272-281.
17. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;1:45-48.
18. Abbs SC, Yau S, Clar SK, Mathew CG, Bobrow M. A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J Med Genet 1991;5:304-311. (Pubitemid 21922605)
19. Giliberto F, Ferreiro V, Dalamon V, Szijan I. Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy. Neurol Res 2004;26:83-87. (Pubitemid 38174393)
20. Bassam BJ, Caetano-Anollés G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991;1:217.
21. Nobile C, Galvagni F, Marchi J, Roberts R, Vitiello L. Genomic organization of the human dystrophin gene across the major deletion hot spot and 3′ region. Genomics 1995;28:97-100.
22. Essen AJ, Mulder IM, van der Vlies P, van der Hout AH, Buys CH, Hofstra RM, et al. Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet 2003;3:296-298. (Pubitemid 37063943)
23. Chaturvedi LS, Mittal RD, Srivastava S, Mukherjee M, Mittal B. Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy. Clin Genet 2000;3:234-236.
24. Barbujani G, Russo A, Danieli GA, Spiegler AWJ, Borkowska J, Hausmanova Petrusewicz I. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990;84:522-526.
25. Ferreiro V, Szijan I, Giliberto F. Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene. Mol Diagn 2004;8:115-121. (Pubitemid 39363466)
26. Baranzini S, Giliberto F, Dalamón V, Barriero C, García Erro M, Szijan I. Carrier detection in Duchenne and Becker muscular dystrophy in Argentinian families using STR-(CA)n polymorphisms. Clin Genet 1998;54:503-511. (Pubitemid 29002414)
27. Seldin MF, Tian C, Shigeta R, Scherbarth HR, Silva G, Belmont JW, et al. Argentine population genetic structure: large variance in Amerindian contribution. Am J Phys Anthropol 2007;3:455-462.
28. Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005;13:1231-1234.
29. King SC, Roche AL, Passos-Bueno MR, Takata R, Zatz M, Cockburn DJ, et al. Molecular characterization of further dystrophin gene microsatellites. Mol Cell Probes 1995;5:361-370.
30. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154. (Pubitemid 26085878)