Objective: To evaluate the potential of Multifluor fluorescence in situ hybridization (M-FISH) for karyotyping the human oocyte and first polar body.
Design: Prospective case study.
Setting: Research laboratories, university hospital.
Patient(s): A 33-year-old woman with polycystic ovary syndrome who was undergoing ovarian stimulation and ICSI.
Main Outcome Measure(s): Karyotyping of all chromosomes within an oocyte and first polar body, using GV stage oocytes matured to metaphase II in vitro.
Result(s): Oocyte hyperploidy was diagnosed by M-FISH to be 23, X +15 cht +19 cht +22 cht. The correspond- ing polar body was hypoploid, with a karyotype of 23, X -15 cht -19 cht -22 cht. This was due to unbalanced predivision at meiosis I. Reprobing confirmed karyotype assignments for chromosomes X, 13, 18, and 21.
Conclusion(s): The mechanism involved in maternally derived aneuploidy can be defined by using M-FISH to simultaneously karyotype both oocyte and first polar body chromosomes at metaphase II. Multifluor FISH may be useful for investigative studies of maternally derived aneuploidy, which is a major cause of preimplantation waste in natural and assisted reproduction.
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Article Synopsis
- PARL is a rhomboid membrane protein essential for mitochondrial function and plays a significant role in oocyte maturation, though its specific effects are not well understood.
- Inhibiting PARL expression resulted in reduced polar body extrusion and abnormal embryo development, along with negative impacts on mitochondrial activity and increased oxidative stress in porcine oocytes.
- PARL deficiency also altered the expression of key genes related to mitochondrial function and DNA integrity, emphasizing its critical role in the maturation process of oocytes.
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