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Related Experiment Videos

Moisaicism in the human preimplantation embryo

A H Handyside1

  • 1UMDS Department of Obstetrics and Gynaecology, Saint Thomas' Hospital, London, UK.

Reproduction, Nutrition, Development
|January 1, 1996
PubMed
Summary

Human embryos exhibit widespread genetic mosaicism from fertilization onwards. This genetic variation, detectable through advanced techniques like fluorescent in situ hybridization (FISH), challenges the notion of a fixed genotype at conception.

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Area of Science:

  • Reproductive biology
  • Human genetics
  • Developmental biology

Background:

  • Recent research indicates significant genetic mosaicism in human preimplantation embryos.
  • This mosaicism affects both nuclear and chromosomal levels, originating during fertilization and early development.

Purpose of the Study:

  • To investigate the extent and implications of genetic mosaicism in human preimplantation embryos.
  • To analyze the genetic makeup of early embryos using advanced molecular cytogenetic techniques.

Main Methods:

  • Utilized fluorescent in situ hybridization (FISH) for molecular cytogenetic analysis.
  • Applied FISH to examine all or nearly all nuclei in cleavage stage embryos.

Main Results:

  • Demonstrated widespread mosaicism at the nuclear and chromosomal level in human preimplantation embryos.
  • Showcased the capability of FISH to analyze multiple nuclei in early embryos, revealing genetic heterogeneity.

Conclusions:

  • The genotype of an individual is not solely determined by germ cells at conception.
  • Fertilization, syngamy, and postzygotic mitotic divisions can be irregular, leading to emergent genotypes through a selection process, particularly observed in vitro.

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