Multiplex PCR for rapid detection of exonal deletions in patients of duchenne muscular dystrophy

Indian Journal of Clinical Biochemistry

Volumn 21, Issue 1, 2006, Pages 147-151

  Singh, Ritu ^a   Vijjaya, ^b   Kabra, Madhulika ^b  

^a LADY HARDINGE MEDICAL COLLEGE   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Duchenne muscular dystrophy; Exons; Hot spot deletions; Multiplex PCR; Prenatal diagnosis

Indexed keywords

DYSTROPHIN;

ARTICLE; CASE REPORT; CHORION VILLUS; CLINICAL FEATURE; DELETION MUTANT; DUCHENNE MUSCULAR DYSTROPHY; EXON; FAMILY HISTORY; GENE DELETION; HETEROZYGOTE DETECTION; HUMAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; SYMPTOMATOLOGY; X CHROMOSOME LINKED DISORDER;

EID: 33644926758     PISSN: 09701915     EISSN: 09701915     Source Type: Journal    
DOI: 10.1007/BF02913084     Document Type: Article

References (18)

1. Maheshwari, M., Vijaya, R., Kabra, M., Arora, S., Shastri,S.S., Deka, D., Kriplani, A. and Menon, P. (2000). Prenatal diagnosis of duchenne muscular dystrophy. Natl. Med. J. India. 13 (3),129-131.
2. Emery, A.E.H. (1991). Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscular disorders 1,19-29.
3. Kawamura, J. (1997). Detection of mutation in dystrophin gene in Duchenne muscular dystrophy - multiplex PCR and Southern blot analysis. Nippon Rinsho. 55 (12), 3126-3130.
4. Evans, M.I., Greb, A., Kunkel, L.M., Sacks, A.J., Johnson, M.P., Boehm, C., Kazazian, H.H. Jr. and Hoffman,E.P. (1991). In utero fetal muscle biopsy for diagnosis of Duchenne muscular dystrophy. Am. J. Obstet. Gynecol. 165, 728.
5. Den Dunnen, J.T., GrootScholten, P.M., Bakker, E., Blonden, L.A.J., Ginjaar, H.B., Wapenaar, M.C., Paassen, H.M.B., Broeckhoven, C., Pearson ,P.L. and Ommen, G.B.J. (1989). Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and eDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45, 835-847.
6. Bakker, E., Hofker, M.H., Goor, N., Mendel, J.L., Wrogemann, K., Davies, K.E., Kunkel, L.M., Willard, H.F., Fenton, W.A., Sandkeyl, L. and Krakouer, M. (1985). Prenatal diagnosis and carrier detection of Duchenne Muscular dystrophy with closely linked RFLPs. Lancet. 1 (8430), 655-658.
7. Champerlain, J.S., Gibbs, R.A., Ranier, J.E., Nguyen, P.N. and Caskey, C.T. (1988). Deletion Screening of Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic acid Res. 16, 11141-11156.
8. Chamberlain, J.S., Chamberlain, J.R., Fenwick, R.G., Ward, P.A., Caskey, C.T., Dimnik, L.S., BechHansen,N.D.,Hoar , D.I., Tantravahi, V., Richards,S., Covane,A.E., Romeo, G., Abbs, S., Bentley, D.R., Bobrow, M ., Rysiecki, G., Ray, P.N., Boileac, C., Junien, C., Boehm, C., Venne, V.L., Fujimura, F.K., Spiga, I., Ferrari, M., Tedeschi, S., Bakker, E., Kneppers, L.J., VanOmen, G.J.B., Jain, K., Spector, E., Crandall, B., Kiuru, A. and Savonisus, M.L. (1992). Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction - A multicenter study. JAMA. 267, 2609-2615.
9. Sambrook, J., Fritsch, E.F. and Maniatis,T. (1989). Molecular cloning : A laboratory manual. 2nd edition. Cold Spring Harbor Laboratory, Cold Spring Harbor. N.Y.
10. Beggs, A.L.L., Koenig, M., Boycee, F.M. and Kunkel, L.M. (1990). Detection of 98% of DMD/ BMD gene deletions by polymerase Chain reaction. Hum. Genet. 86, 45-48.
11. Emery, A.E. and Burt, D. (1980). Intracellular Calcium, pathogenesis and antenatal diagnosis of Duchenne muscular dystrophy. Brit. Med. J. 280, 355-357.
12. Edwards, R.R., Watts, D.C., Watts, R.L. and Rodeck, C.H. (1984). Creatinine Kinase estimation in pure fetal blood samples for prenatal diagnosis of Duchenne muscular dystrophy. Pre. Diag. 4, 267-277.
13. Darras, B.T., Harper, J.F. and Francke, U. (1988). Direct method of prenatal diagnosis and carrier detection of Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am. J. Med. Genet. 29, 713-726.
14. Werneck, L.C., Scola, R.H., Maegawa, G.H. and Werneck, M.C. (2001). Comparative analysis of PCR deletion detection and immunochemistry in Brazilian Duchenne and Becker muscular dystrophy patients. Am. J. Med. Genet. 103 (2), 115-120.
15. Banerjee, M. and Verma, I.C. (1997). Are there Ethnic Differences in Deletions in the Dystrophin Gene? Am. J. Med. Genet. 68,152-157.
16. Hu, X., Burghes, A.H.M., Ray, P.N.,Thompson, M.W., Murphy, E.G. and Worton, R.G. (1988). Partial gene duplication in Duchenne and Becker muscular dystrophy. J. Med. Genet. 25, 369-376.
17. Forrest, S.M., Cross, G.S., Flint, T., Speer, A., Robson, K.J.H. and Davies, K.E. (1988). Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics. 2, 109-114.
18. Clemens, P.R., Fenwick, R.G., Chamberlain, J.S., Gibbs, R.A., de Andrade, M., Chakraborty, R. and Caskey, C.T. (1991). Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families using dinucleotide repeat polymorphisms. Am. J. Hum. Genet. 49, 951-960.