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The origin of dystrophin gene deletions among Duchenne and Becker muscular dystrophy patients from Ukraine

Kravchenko S.A., Nechyporenko M.V., Livshits L.A.

 




SUMMARY. Data of exon deletions and duplications analysis of the dystrophin gene from 121 Duchenne and Becker Muscular Dystrophy patients from Ukraine was pre-sented. It was shown that the level of de novo deletions in these families reached 53 %, while the most of deletions were localized in the distal part of the gene. It is important to take into account these data for genetic counseling to assess the risk of birth patient with DMD/MGB, including during prenatal diagnosis, in Duchenne muscular dystrophy and Becker families.

Key words: Duchenne muscular dystrophy, mutations de novo, MLPA

Tsitologiya i Genetika 2017, vol. 51, no. 3, pp. 46-53

E-mail: livshits imbg.org.ua

Kravchenko S.A., Nechyporenko M.V., Livshits L.A. The origin of dystrophin gene deletions among Duchenne and Becker muscular dystrophy patients from Ukraine, Tsitol Genet., 2017, vol. 51, no. 3, pp. 46-53.

In "Cytology and Genetics":
S. A. Kravchenko, M. V. Nechyporenko, L. A. Livshits Origin of dystrophin gene deletions in Duchenne and Becker muscular dystrophy patients from Ukraine, Cytol Genet., 2017, vol. 51, no. 3, pp. 185–191
DOI: 10.3103/S0095452717030057


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