Origin of dystrophin gene deletions in Duchenne and Becker muscular dystrophy patients from Ukraine

SA Kravchenko, MV Nechyporenko, LA Livshits - Cytology and Genetics, 2017 - Springer
Cytology and Genetics, 2017Springer
The results of the analysis of exon deletions and duplications in the dystrophin gene
sequences from 121 Duchenne and Becker muscular dystrophy patients from Ukraine are
presented. It is shown that the level of de novo deletions in these families reaches 53%, and
most of the deletions are localized in the distal part of the gene. It is important to take into
account these data in genetic counseling to assess the risk of birth of patients with
DMD/BMD, including in prenatal diagnostics, in families with Duchenne and Becker …
Abstract
The results of the analysis of exon deletions and duplications in the dystrophin gene sequences from 121 Duchenne and Becker muscular dystrophy patients from Ukraine are presented. It is shown that the level of de novo deletions in these families reaches 53%, and most of the deletions are localized in the distal part of the gene. It is important to take into account these data in genetic counseling to assess the risk of birth of patients with DMD/BMD, including in prenatal diagnostics, in families with Duchenne and Becker muscular dystrophy patients.
Springer
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