Balkan Journal of Medical Genetics

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