Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model.

Preimplantation genetic diagnosis (PGD) is a technique that enables identification of unaffected embryos prior to in vitro fertilization (IVF) transfer in couples at risk for a Mendelian disorder. Most cases involve severe genetic diseases with neurological features and/or major malformations. We present two couples in which PGD was performed for prevention of type 1 Gaucher disease, a non-neuronopathic, non-lethal disorder. We developed a multiplex fluorescent PCR protocol, simultaneously amplifying the familial mutations and eight closely spaced, highly polymorphic informative microsatellite markers surrounding the gene, to be used for PGD analysis. Couple #1 mother was homozygous for the N370S mutation and the father carried the 84GG mutation; their first daughter receives specific Gaucher therapy. One PGD cycle resulted in seven embryos of which four had the paternal wild type allele; two were transferred resulting in a healthy baby boy born at term. Couple #2, each a carrier (N370S and R359Q), whose first-born child had died (age 5years) of Gaucher disease, underwent 7 PGD cycles. Only one cycle resulted in a clinical pregnancy but a miscarriage was followed at 10weeks. PGD is an effective and accurate method for preventing Gaucher disease type I in carrier couples. Since this disease is treatable, special ethical considerations and careful selection of couples should be performed. Copyright © 2010 Elsevier Inc. All rights reserved.

Citation

Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Irit Varshower, Baruch Brooks, Rachel Beeri, Ehud J Margalioth, Ephrat Levy-Lahad, Deborah Elstein, Ari Zimran. Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. Blood cells, molecules & diseases. 2011 Jan 15;46(1):15-8

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PMID: 20684885

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