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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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FISH for Pre-implantation Genetic Diagnosis
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Complex chromosomal rearrangement-a lesson learned from PGS.

Tsvia Frumkin1, Sagit Peleg1, Veronica Gold1

  • 1Wolf PGD Stem Cell Lab, Racine IVF Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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Summary

Preimplantation genetic screening (PGS) with chromosomal microarray analysis (CMA) identified a complex chromosomal rearrangement (CCR) in an infertile couple. Subsequent preimplantation genetic diagnosis (PGD) enabled the birth of a healthy baby.

Keywords:
Chromosomal microarray analysis (CMA)Complex chromosomal rearrangement (CCR)Preimplantation genetic diagnosis (PGD)Preimplantation genetic screening (PGS)

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Area of Science:

  • Reproductive Medicine
  • Human Genetics
  • Genomics

Background:

  • Recurrent spontaneous miscarriages can be linked to undiagnosed chromosomal abnormalities in parents.
  • Preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) are advanced reproductive technologies used to assess embryo health.
  • Chromosomal microarray analysis (CMA) is a high-resolution genomic technique for detecting chromosomal imbalances.

Observation:

  • A couple with eight unexplained miscarriages presented for IVF-PGD.
  • Initial PGS-CMA revealed chromosomal abnormalities in most embryos.
  • Fluorescence in situ hybridization (FISH) and re-karyotyping identified a complex chromosomal rearrangement (CCR) in the male partner, previously missed by standard karyotyping.

Findings:

  • PGS-CMA effectively detected the CCR in embryos.
  • PGD-CMA identified two chromosomally balanced embryos out of seven.
  • Transfer of a single balanced embryo resulted in a successful pregnancy and the birth of a healthy female infant.

Implications:

  • PGS utilizing CMA is crucial for identifying complex chromosomal rearrangements (CCRs) that may be missed by conventional methods.
  • The combined use of CMA and FISH enhances the detection of CCR carriers.
  • PGD is highly beneficial for couples with CCR, improving reproductive outcomes and reducing miscarriage rates.