PMID: 9441871Jan 27, 1998Paper

Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body

Biochemical and Molecular Medicine
Y VerlinskyA Kuliev

Abstract

Previous work on preimplantation genetic diagnosis (PGD) of single gene disorders by the first polar body (IPB) analysis has demonstrated that the genotype of a considerable number of embryos resulting from heterozygous oocytes cannot be predicted without testing their second PB (IIPB). To overcome this limitation we introduce a two-step DNA analysis of oocytes using both IPB and IIPB to identify hemizygous mutation-free oocytes following the second meiotic division. In the application of the approach to PGD of cystic fibrosis (CF) Delta F-508 mutation, sickle cell disease, and hemophilia B, 80 oocytes were studied by both PBs, resulting in the identification and transfer of 32 homozygous normal embryos. A follow-up genotyping of 52 embryos, resulting from oocytes tested by both IPB and IIPB demonstrated the accuracy of the predicted genotypes. In addition to a nested PCR analysis of the mutant genes in PBs and resulting embryos, simultaneous amplification of different polymorphic markers was performed, demonstrating the reliability of the two-step polar body analysis of oocytes.

References

Apr 1, 1992·Human Molecular Genetics·V Sharma, M Litt
Feb 1, 1992·Prenatal Diagnosis·Y VerlinskyC M Strom
Feb 1, 1996·Journal of Assisted Reproduction and Genetics·J C Harper

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Citations

Sep 18, 2001·Prenatal Diagnosis·A De Vos, A Van Steirteghem
Sep 29, 2001·Molecular and Cellular Endocrinology·Y VerlinskyA Kuliev
Sep 29, 2001·Molecular and Cellular Endocrinology·A KulievY Verlinsky
Mar 30, 2006·Reproductive Biomedicine Online·Anver KulievYury Verlinsky
Jun 14, 2003·Reproductive Biomedicine Online·Y VerlinskyA Kuliev
Feb 5, 2002·The Journal of Molecular Diagnostics : JMD·Alan R Thornhill, Karen Snow
Aug 4, 2001·Human Gene Therapy·D B Resnik, P J Langer
Aug 28, 1999·Genetic Testing·Y VerlinskyA Kuliev
Jul 10, 2010·Human Reproduction·L GianaroliA P Ferraretti
Oct 23, 2010·Human Reproduction·G L HartonUNKNOWN European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium/Embryology Special Interest Group
Jun 16, 1999·Current Opinion in Obstetrics & Gynecology·A H Handyside, C M Ogilvie
Mar 25, 2014·Journal of Assisted Reproduction and Genetics·Ze-Xu JiaoTeresa K Woodruff
Jan 27, 2011·Molecular Reproduction and Development·Samuel Schmerler, Gary M Wessel
Jun 8, 2006·Fertility and Sterility·Claudia SpitsKaren Sermon
Sep 30, 2005·Cytogenetic and Genome Research·A KulievY Verlinsky
Jun 1, 1999·Journal of Genetic Counseling·T Brown, E L Schwind

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