Comparative genomic hybridization analysis of human oocytes and polar bodies.

Authors: Fragouli, E., Wells, D., Thornhill, A., Serhal, P., Faed, M.J.W., Harper, J.C. and Delhanty, J.D.A.

Journal: Hum Reprod

Volume: 21

Issue: 9

Pages: 2319-2328

ISSN: 0268-1161

DOI: 10.1093/humrep/del157

Abstract:

BACKGROUND: Classical cytogenetic methods and fluorescent in situ hybridization (FISH) have been employed for the analysis of chromosomal abnormalities in human oocytes. However, these methods are limited by the need to spread the sample on a microscope slide, a process that risks artefactual chromosome loss. Comparative genomic hybridization (CGH) is a DNA-based method that enables the investigation of the entire chromosome complement. We optimized and evaluated a CGH protocol for the chromosomal analysis of first polar bodies (PBs) and oocytes. The protocol was then employed to obtain a detailed picture of meiosis I errors in human oogenesis. METHODS: 107 MII oocyte-PB complexes were examined using whole genome amplification (WGA) and CGH. RESULTS: Data was obtained for 100 complexes, donated from 46 patients of average age 32.5 (range 18-42). 22 complexes from 15 patients were abnormal, giving an aneuploidy rate of 22%. CONCLUSIONS: The results presented in this study more than double the quantity of CGH data from female gametes currently available. Abnormalities caused by whole chromosome non-disjunction, unbalanced chromatid predivision and chromosome breakage were reliably identified using the CGH protocol. Analysis of the data revealed a preferential participation of chromosome X and the smaller autosomes in aneuploidy and provided further evidence for the existence of age-independent factors in female aneuploidy.

Source: PubMed

Comparative genomic hybridization analysis of human oocytes and polar bodies

Authors: Fragouli, E., Wells, D., Thornhill, A., Serhal, P., Faed, M.J.W., Harper, J.C. and Delhanty, J.D.A.

Journal: HUMAN REPRODUCTION

Volume: 21

Issue: 9

Pages: 2319-2328

eISSN: 1460-2350

ISSN: 0268-1161

DOI: 10.1093/humrep/del157

Source: Web of Science (Lite)

Comparative genomic hybridization analysis of human oocytes and polar bodies.

Authors: Fragouli, E., Wells, D., Thornhill, A., Serhal, P., Faed, M.J.W., Harper, J.C. and Delhanty, J.D.A.

Journal: Human reproduction (Oxford, England)

Volume: 21

Issue: 9

Pages: 2319-2328

eISSN: 1460-2350

ISSN: 0268-1161

DOI: 10.1093/humrep/del157

Abstract:

Background

Classical cytogenetic methods and fluorescent in situ hybridization (FISH) have been employed for the analysis of chromosomal abnormalities in human oocytes. However, these methods are limited by the need to spread the sample on a microscope slide, a process that risks artefactual chromosome loss. Comparative genomic hybridization (CGH) is a DNA-based method that enables the investigation of the entire chromosome complement. We optimized and evaluated a CGH protocol for the chromosomal analysis of first polar bodies (PBs) and oocytes. The protocol was then employed to obtain a detailed picture of meiosis I errors in human oogenesis.

Methods

107 MII oocyte-PB complexes were examined using whole genome amplification (WGA) and CGH.

Results

Data was obtained for 100 complexes, donated from 46 patients of average age 32.5 (range 18-42). 22 complexes from 15 patients were abnormal, giving an aneuploidy rate of 22%.

Conclusions

The results presented in this study more than double the quantity of CGH data from female gametes currently available. Abnormalities caused by whole chromosome non-disjunction, unbalanced chromatid predivision and chromosome breakage were reliably identified using the CGH protocol. Analysis of the data revealed a preferential participation of chromosome X and the smaller autosomes in aneuploidy and provided further evidence for the existence of age-independent factors in female aneuploidy.

Source: Europe PubMed Central