The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation-dependent probe amplification (MLPA) for the DMD deletions/duplications detection. The high frequency of de novo mutations permits to estimate a risk up to 20% of mosaicisms for mothers of sporadic DMD children. The purpose of this study is to evaluate alternative analytical strategy for the detection of mosaics carrier women, in order to improve the recurrence risk estimation.

Zampatti, S., Mela, J., Peconi, C., Pagliaroli, G., Carboni, S., Barrano, G., et al. (2018). Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis. PRENATAL DIAGNOSIS, 38(13), 1096-1102 [10.1002/pd.5369].

Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis

Zampatti S.;Cascella R.;Marella G.;Milano F.;Caltagirone C.;Giardina E.
2018-01-01

Abstract

The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation-dependent probe amplification (MLPA) for the DMD deletions/duplications detection. The high frequency of de novo mutations permits to estimate a risk up to 20% of mosaicisms for mothers of sporadic DMD children. The purpose of this study is to evaluate alternative analytical strategy for the detection of mosaics carrier women, in order to improve the recurrence risk estimation.
2018
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/43 - MEDICINA LEGALE
English
Zampatti, S., Mela, J., Peconi, C., Pagliaroli, G., Carboni, S., Barrano, G., et al. (2018). Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis. PRENATAL DIAGNOSIS, 38(13), 1096-1102 [10.1002/pd.5369].
Zampatti, S; Mela, J; Peconi, C; Pagliaroli, G; Carboni, S; Barrano, G; Zito, I; Cascella, R; Marella, G; Milano, F; Arcangeli, M; Caltagirone, C; Novelli, A; Giardina, E
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/209234
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