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Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis
Joint Authors
Epsztejn-Litman, Silvina
Renbaum, Paul
Elstein, Deborah
Zimran, Ari
Levy-Lahad, Ephrat
Eiges, Rachel
Eldar-Geva, Talia
Margalioth, Ehud J.
Beeri, Rachel
Altarescu, Gheona
Source
Molecular Biology International
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-12-26
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Natural & Life Sciences (Multidisciplinary)
Biology
Abstract EN
Preimplantation genetic diagnosis (PGD) allows birth of unaffected children for couples at risk for a genetic disorder.
We present the strategy and outcome of PGD for four lysosomal storage disorders (LSD): Tay-Sachs disease (TSD), Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (HS), and subsequent development of stem cell lines.
For each disease, we developed a family-specific fluorescent multiplex single-cell PCR protocol that included the familial mutation and informative markers surrounding the mutation.
Embryo biopsy and PGD analysis were performed on either oocytes (polar bodies one and two) or on single blastomeres from a six-cell embryo.
We treated twenty families carrying mutations in these lysosomal storage disorders, including 3 couples requiring simultaneous analysis for two disorders (TSD/GD, TSD/balanced Robertsonian translocation 45XYder(21;14), and HS/oculocutaneus albinism).
These analyses led to an overall pregnancy rate/embryo transfer of 38% and the birth of 20 unaffected children from 17 families.
We have found that PGD for lysosomal disorders is a safe and effective method to prevent birth of affected children.
In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research.
American Psychological Association (APA)
Altarescu, Gheona& Beeri, Rachel& Eiges, Rachel& Epsztejn-Litman, Silvina& Eldar-Geva, Talia& Elstein, Deborah…[et al.]. 2012. Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis. Molecular Biology International،Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-498932
Modern Language Association (MLA)
Altarescu, Gheona…[et al.]. Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis. Molecular Biology International No. 2012 (2012), pp.1-9.
https://search.emarefa.net/detail/BIM-498932
American Medical Association (AMA)
Altarescu, Gheona& Beeri, Rachel& Eiges, Rachel& Epsztejn-Litman, Silvina& Eldar-Geva, Talia& Elstein, Deborah…[et al.]. Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis. Molecular Biology International. 2012. Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-498932
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-498932