PRENATAL DIAGNOSIS IN MACEDONIAN DUCHENNE MUSCULAR DYSTROPHY FAMILIES
Kocheva SA1,2, Trivodalieva S1, Plaseska-Karanfilska D1, Vlaski-Jekic S3, Kuturec M2, Efremov GD1,*
*Corresponding Author: Professor Dr. Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Aven Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel.: +3892-120253; Fax: +3892-115434; E-mail: gde@manu.edu.mk
page: 59

REFERENCES

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2. Hoffman EP, Brown RH Jr, Kunkel lM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51(6): 919-928.

3. Den Dunnen JT, Grootscholten PM, Dauwerse JG, Walker AP. Reconstruction of the 2.4 Mb human DMD gene by homologous YAC recombination. Hum Mol Genet 1992; 1(1): 19-28.

4. Yoshida M, Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 1990; 108(5): 748-752.

5. Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991; 66(6): 1121-1131.

6. Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993; 122(4): 809-823.

7. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Fenner C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genetic organization of the DMD gene in normal and affected individuals. Cell 1987; 50(3): 509-517.

8. Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LAJ, Ginjaar HB, Wapenaar MC, Van Paassen HMB, Van Broeckhoven C, Pearson PL, Van Ommen GJB. 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(6): 835-837.

9. Roberts RG, Bobrow M, Bently DR. Point mutations in the dystrophin gene. Proc Natl Acad Sci USA. 1992; 89(6): 2331-2335.

10. Efremov GD, Dimovski AJ, Plaseska-Karanfilska D, Simjanovsa L, Sukarova E, Koceva S, Popovski Z. Laboratory Manual (2nd ed). ICGEB Affiliated Center “Nucleic acid based methods in human and veterinary medicine”, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia 1998.

11. Chamberlain JS, Gibbs RA, Ranier JE, Nga Nguyen PN Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 16(23): 11141-11156.

12. Beggs AH, Koening M, Boyce FM, Kunkel LM. Detection of 98-percent DMD/BMD gene deletion by polymerase chain reaction. Hum Genet 1990; 86(1): 45-48.

13. Abbs SJ, Yau SC, Mathew CG Bobrow M. A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridization shows mistyping by both methods. J Med Genet 1991; 28(5): 304-311.

14. 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.

15. Beggs AH, Kunkel LM. A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucleic Acid Res 1990; 18(7): 1931.

16. 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(3): 621-627.

17. Kocheva AS,Trivodalieva S, Vlaski-Jekic S, Kuturec M, Efremov DG. Identification of deletions and duplications of the DMD gene in Macedonian patients using Multiplex Ligation-dependent Probe Amplification (MLPA). Proceedings of the European Human Genetics Conference, Nice, France, June 2007. Eur J Hum Genet 15(Suppl 1): 191.





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