Oocyte biology and genetics revelations from polar bodies.
The enormous volume of the fertilized egg is attributable to the suppression of cleavage during oocyte growth and the unequal cleavages during the first and second meiotic divisions. The two products of these divisions are the diminutive polar bodies (PB), which contain a redundant set of chromosomes/chromatids plus cytoplasmic organelles. The PB have strictly limited but differential life spans; while viable they possess the genetic potential to support normal embryonic development after transfer to a cytoplast. In addition to the theoretical possibility of using this non-cloning technique to generate more embryos, polar bodies can be used for genetic testing. By cytogenetic analysis of both PB using fluorescent in-situ hybridization (FISH) or chromosome painting, partial or full chromosomal status in the oocyte can be predicted; this approach finds particular application for women of advanced reproductive age as well as with maternally inherited translocations and single gene defects. By studying both of the PB, potential problems of interpretation arising from allele dropout can be reduced; a heterozygous first polar body provides the least ambiguous result. Mitochondria segregate randomly during meiotic cleavages providing an opportunity also to use the PB to screen for mitochondrial mutations and deletions. Thus, the PB can serve useful diagnostic purposes, especially where pre-fertilization screening or avoidance of embryo biopsy is desirable.
Gitlin
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SA
The Jones Institute for Reproductive Medicine, Department of Obstetrics and Gynecology, Eastern Virginia Medical School, 601 Colley Avenue, Norfolk, VA 23507, USA. gitlinsa@evms.edu
Gibbons
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WE
Gosden
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RG
D000782:Aneuploidy; D000818:Animals; D002874:Chromosome Mapping; D003593:Cytoplasm / Q000502:physiology* / Q000648:ultrastructure*; D004272:DNA, Mitochondrial / Q000235:genetics / Q000502:physiology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D051379:Mice; D009865:Oocytes / Q000502:physiology* / Q000648:ultrastructure*; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic
D004272:DNA, Mitochondrial