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Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously

  • GENETICS
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Abstract

Purpose

Description of the confluence of different molecular techniques to detect three different mutations in one cell. The man carries a 20 base pair insertion in exon 12 of the POR gene (c.1551_1552ins20), and the woman carries a point mutation in exon 8 of the POR gene (c.859G>C) plus a triplet repeat expansion in the HTT gene.

Methods

Huntington Disease (HD) had to be diagnosed using short tandem repeat (STR) markers linked to the HTT gene. The mutation c.1551_1552ins20 was analyzed by fragment size and c.859G>C was minisequenced. Furthermore, STR markers linked to the POR gene were included to support the diagnosis of P450 oxidoreductase (POR) deficiency.

Results

Nine embryos were diagnosed in total: three as POR deficiency affected, two as HD affected, one as POR deficiency and HD affected, and two as carriers of the paternal POR deficiency mutation and healthy for HD. These two last embryos were transferred but no pregnancy was achieved.

Conclusions

A successful procedure combining direct and indirect methods for the detection of three different mutations in a single cell has been achieved for the first time.

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Author information

Author notes

  1. Esther Fernández

    Present address: PGD Laboratory Geniality, Diagnóstico Genético, Madrid, Spain

  2. Manuel Pérez-Alonso

    Present address: Department of Genetics, University of Valencia, Burjassot, Valencia, Spain

Authors and Affiliations

  1. Molecular-PGD Laboratory, Sistemas Genómicos S.L., Ronda G. Marconi 6, Parque Tecnológico de Valencia, 46980, Paterna, Valencia, Spain

    Trinitat M. Alberola & Rosa Bautista-Llácer

  2. IVF Laboratory Quirón-Madrid, Madrid, Spain

    Esther Fernández

  3. Reproductive Genetics Unit, Sistemas Genómicos S.L., Ronda G. Marconi 6, Parque Tecnológico de Valencia, 46980, Paterna, Valencia, Spain

    Xavier Vendrell

  4. Scientific Director, Sistemas Genómicos S.L., Ronda G. Marconi 6, Parque Tecnológico de Valencia, 46980, Paterna, Valencia, Spain

    Manuel Pérez-Alonso

Authors
  1. Trinitat M. Alberola
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  2. Rosa Bautista-Llácer
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  3. Esther Fernández
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  4. Xavier Vendrell
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  5. Manuel Pérez-Alonso
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Corresponding author

Correspondence to Trinitat M. Alberola.

Additional information

A description of two PGD cycles for the simultaneous detection of two monogenic diseases in one couple: P450 oxidoreductase deficiency and Huntington Disease.

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Alberola, T.M., Bautista-Llácer, R., Fernández, E. et al. Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously. J Assist Reprod Genet 26, 263–271 (2009). https://doi.org/10.1007/s10815-009-9327-5

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  • DOI: https://doi.org/10.1007/s10815-009-9327-5

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