PP84. MLPA ANALYSIS FOR DELETIONS/DUPLICATIONS DETECTION IN BULGARIAN DMD/BMD PATIENTS
ALBENA TODOROVA 1, N. Bogdanova 2, I. Kremensky 1, J. Horst 2 and B. Dworniczak 2 1. National Genetics Laboratory, Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Sofia Medical University, Sofia, Bulgaria 2. Institute of Human Genetics, University of Muenster, Muenster, Germany e-mail: todorova@medfac.acad.bg
*Corresponding Author:
page: 85

Abstract

Multiple ligation-dependent probe amplification (MLPA) is a quantitative method to establish the copy number of up to 45 nucleic acid sequences in one single reaction. It has a perfect application to detect deletions/duplications of one or more exons of a gene. Duchenne/Becker muscular dystrophy (DMD/BMD) is caused in more than 70% of the cases by deletions or duplications of a part of the very large dystrophin gene. The MLPA provides a cheap and a powerful tool to screen the whole dystrophin gene in two single reactions. It is suitable also to detect the carrier status of female relatives of the affected boys. Moreover, this analysis could be performed in the families where the index patient is no more available. Fifteen unrelated DMD/BMD families from Bulgaria were analyzed by MLPA kit specific for the dystrophin gene. Altogether, 14 affected boys, 12 female relatives and one family with no index patient, but the mother, obligate carrier and her daughter were available for analysis. Deletions were detected in 8 patients. Duplications were registered in 6 cases. The family with no index patient was also clarified - a deletion of exons 46-52 was detected in the mother, while her daughter was proved to be non-carrier. The daughter carries a recombination starting in intron 45, just before the deletion and from there she carries the unaffected X-chromosome. The MLPA proved to be a powerful tool in clarifying the molecular defects along the dystrophin gene. It became a method of choice in genetic analysis of Bulgarian DMD/BMD families.



Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006