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Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases (May 2014)

cell
Title:
Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases
Journal:
Cell Reports, Vol. 7, Issue 4, p935–937, 2014
Author(s):
Shoukhrat Mitalipov, Paula Amato, Samuel Parry, Marni J. Falk
 

 

Short description:
Stef fann et al. (2014) highlight significant differences in predicting the transmission of mitochondrial DNA (mtDNA) mutations by preimplantation genetic diagnosis (PGD) in human and rhesus macaque embryos. We previously demonstrated considerable segregation of mtDNA variants between daughter blastomeres within a monkey 8-cell embryo, implying that sampling and analyzing of one or two blastomeres may not be fully predictive of total mutation load in the remaining embryo. Moreover, monkey offspring produced from heteroplasmic embryos were nearly homoplasmic, suggesting that mtDNA mutation levels may increase drastically due to a genetic bottleneck (Lee et al., 2012).
Link to the journal
 

 

Abstract taken from PubMed

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Link to the paper on PubMed
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