Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy

Indian Pediatrics

Volumn 38, Issue 6, 2001, Pages 631-639

  Panigrahi, Inusha ^a   Mittal, Balraj ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; MALE; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW;

FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0035375909     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (29)

1. Emery AEH. Population frequencies of inherited neuromuscular disease - A world survey. Neuromuscul Disord 1991; 1: 19-21.
2. Swaiman KF, Smith SA. Progressive muscular dystrophies. In: Pediatric Neurology: Principles and Practice. 1st edn. Ed. Swaiman KF. St. Louis, The C.V. Mosby Company, 1989; pp 1139-1149.
3. Gruemer HD, Miller WGB, Chinchilli VM, Leshner RT, Blasco PA, Hassler CR, et al. Prediction of carrier status in Duchenne dystrophy by creatine kinase measurement. Am J Clin Pathol 1985; 84: 655-658.
4. Bertolotto A, de Marchi M, Doriguzzi C, Mongini T, Monnier C, Palmucci L, et. al. Epidemiology of Duchenne muscular dystrophy in the province of Turin. Ital J Neurol Sci 1981; 2: 81-84.
5. Bonilla E, Schmidt B, Samitt CE, Miranda AF, Hays AP, de Oliveira AB, et al. Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy. Am J Pathol 1988; 133: 440-445.
6. Hoffman EP, Fischbeck HK, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. New Engl J Med 1988; 318: 1363-1368.
7. Den Dunnen JT, Bakker E, Klein Breteler EG, Pearson PL, Van Ommen GJB. Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature 1987; 329: 640-642.
8. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM, 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: 509-517.
9. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey C. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucl Acid Res 1988; 16: 11141-11156.
10. Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, et al. Topography of the DMD gene, FIGE and cDNA analysis of 194 case reveals 115 deletions and duplications. Am J Hum Genet 1989; 45: 835-847.
11. Abbs S, Bobrow M. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 1992; 29: 191-196.
12. Sinha S, Mishra S, Singh V, Mittal RD, Mittal B. High frequency of new mutations in north Indian Duchenne/Becker muscular dystrophy patients. Clin Genet 1996; 50: 327-331.
13. Alcantara MA, Villarreal MT, Del Castillo V, Gutierrez G, Saldana Y, Maulen I, et al. High freqeuncy of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counselling. Clin Genet 1999; 55: 376-380,
14. Kneppers ALJ, Deutz-Terlouw PP, den Dunnen JT, van Ommen GJB, Bakker E. Point mutation screening for 16 exons of the dystrophin gene by multiplex single strand conformation polymorphism analysis. Hum Mutat 1995; 5: 235-242.
15. Prior TW, Wenger GD, Papp AC, Snyder PJ, Sedra MS, Bartolo C, et al. Rapid DNA haplotying using a multiplex heteroduplex approach: Application to Duchenne muscular dystrophy carrier testing. Hum Mutat 1995; 5: 263-268.
16. Kiliman MW, Pizzuti A, Grompe M, Caskey CT. Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by m-PCR. Hum Genet 1992; 89: 253-258.
17. Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, 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.
18. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of D/BMD gene deletions by polymerase chain reaction. Hum Genet 1990b: 45-48.
19. Boulay JL, Reuter J, Ritschard R, Terraciano L, Herrmann R, Rochlitz C. Gene dosage by quantitative real-time PCR. Biotechniques 1999; 27: 230-288.
20. Ravine D. Automated mutation analysis. J Inherit Metab Dis 1999; 22: 503-518.
21. Tautz D, Renz M. Simple sequences are ubiquitous repetitive components of eukaryotic genomes. Nucl Acids Res 1984; 12: 4127-4128.
22. Melis MA, Cau M, Congiu R, Puddu R, Muntoni F, Cao A. Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling. Clin Genet 1993; 43: 247-249.
23. Calvano S, Memeo E, Piemontese MR, Melchionda S, Bisceglia L, Gasparini P, et al. Detection of dystrophin deletion carriers using FISH analysis. Clin Genet 1997; 52: 17-22.
24. Roberts RG. Barby TFM, Manners E, Bobrow M, Bentley DR. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet 1991; 49: 298-310.
25. Whittock NV, Roberts RG, Mathew CG, Abbs SJ. Dystrophin point mutation screening using a multiplex Protein Truncation Test. Genet Testing 1997; 1: 115-123.
26. Tuffery-Giraud S, Chambert S, Demaille J, Clausters M. Genotypic diagnosis of Duchenne and Becker muscular dystrophies. Ann Biol Clin 1999; 57: 417-426.
27. Singh V, Sinha S, Mishra S, Chaturvedi LS, Pradhan S, Mittal RD, et al. Proportion and pattern of dystrophin gene deletion in North Indian Duchenne and Becker muscular dystrophy patients. Hum Genet 1997; 99: 206-208.
28. Mittal B, Singh V, Mishra S, Sinha S, Mittal RD, Chaturvedi LS, et al. Genotype-phenotype in Duchenne/Becker muscular dystrophy patients seen at Lucknow. Indian J Med Res 1997; 105: 32-38.
29. 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/Becker Muscular Dystrophy. Clin Genet 2000; 58: 234-235.