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.

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