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Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos.

Xu J, Zhang M, Niu W, Yao G, Sun B, Bao X, Wang L, Du L, Sun Y - Sci Rep (2015)

Bottom Line: The percentage of UPDs among the morphologically abnormal sourced blastocysts was 3.73%, which is significant higher than the percentage observed in normal blastocysts.The frequency of UPD in 3PN-sourced blastocysts was 7.69%, which is significantly higher than that in normal blastocysts.Our results indicated that UPD may be a common phenomenon in discarded morphologically abnormal embryos and may be relevant to human embryonic self-correction.

View Article: PubMed Central - PubMed

Affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.

ABSTRACT
Uniparental disomy (UPD) has been shown to be rare in human normal blastocysts, but its frequency in discarded morphologically abnormal embryos and its relevance to embryonic self-correction of aneuploid remains unknown. The aim of this study was to detect UPD in discarded morphologically abnormal embryos. Both discarded morphologically abnormal embryos, including zero-pronuclear zygotes (0PN), one-pronuclear zygotes (1PN), three-pronuclear zygotes (3PN) and 2PN embryos scored as low development potential were cultured into blastocysts then underwent trophectoderm biopsy. Genome-wide UPD screening of the trophectoderm of 241 discarded morphologically abnormal embryo sourced blastocysts showed that UPD occurred in nine embryos. Five embryos exhibited UPDs with euploid chromosomes, and four displayed UPDs with chromosomal aneuploid. The percentage of UPDs among the morphologically abnormal sourced blastocysts was 3.73%, which is significant higher than the percentage observed in normal blastocysts. The frequency of UPD in 3PN-sourced blastocysts was 7.69%, which is significantly higher than that in normal blastocysts. This study provides the first systematic genome-wide profile of UPD in discarded morphologically abnormal embryos. Our results indicated that UPD may be a common phenomenon in discarded morphologically abnormal embryos and may be relevant to human embryonic self-correction.

No MeSH data available.


Normal male SNP array with one X chromosome and one Y chromosome.a. SNP array of limited cell MDA-amplification. b. Genomic DNA SNP array result.
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f3: Normal male SNP array with one X chromosome and one Y chromosome.a. SNP array of limited cell MDA-amplification. b. Genomic DNA SNP array result.

Mentions: In the validation group, control 1 harboured 7 UPDs located in 5 chromosomes. Control 2 exhibited 4 UPDs located in 3 chromosomes. These results are the same as those of the multi-cell of the same sample. The other two negative controls (one male and one female) showed no UPDs (Figs 1, 2 and 3). Both the samples using MDA-amplified DNA and those using global DNA from blood yielded the same results regarding UPD-containing regions.


Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos.

Xu J, Zhang M, Niu W, Yao G, Sun B, Bao X, Wang L, Du L, Sun Y - Sci Rep (2015)

Normal male SNP array with one X chromosome and one Y chromosome.a. SNP array of limited cell MDA-amplification. b. Genomic DNA SNP array result.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4508668&req=5

f3: Normal male SNP array with one X chromosome and one Y chromosome.a. SNP array of limited cell MDA-amplification. b. Genomic DNA SNP array result.
Mentions: In the validation group, control 1 harboured 7 UPDs located in 5 chromosomes. Control 2 exhibited 4 UPDs located in 3 chromosomes. These results are the same as those of the multi-cell of the same sample. The other two negative controls (one male and one female) showed no UPDs (Figs 1, 2 and 3). Both the samples using MDA-amplified DNA and those using global DNA from blood yielded the same results regarding UPD-containing regions.

Bottom Line: The percentage of UPDs among the morphologically abnormal sourced blastocysts was 3.73%, which is significant higher than the percentage observed in normal blastocysts.The frequency of UPD in 3PN-sourced blastocysts was 7.69%, which is significantly higher than that in normal blastocysts.Our results indicated that UPD may be a common phenomenon in discarded morphologically abnormal embryos and may be relevant to human embryonic self-correction.

View Article: PubMed Central - PubMed

Affiliation: Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People's Republic of China.

ABSTRACT
Uniparental disomy (UPD) has been shown to be rare in human normal blastocysts, but its frequency in discarded morphologically abnormal embryos and its relevance to embryonic self-correction of aneuploid remains unknown. The aim of this study was to detect UPD in discarded morphologically abnormal embryos. Both discarded morphologically abnormal embryos, including zero-pronuclear zygotes (0PN), one-pronuclear zygotes (1PN), three-pronuclear zygotes (3PN) and 2PN embryos scored as low development potential were cultured into blastocysts then underwent trophectoderm biopsy. Genome-wide UPD screening of the trophectoderm of 241 discarded morphologically abnormal embryo sourced blastocysts showed that UPD occurred in nine embryos. Five embryos exhibited UPDs with euploid chromosomes, and four displayed UPDs with chromosomal aneuploid. The percentage of UPDs among the morphologically abnormal sourced blastocysts was 3.73%, which is significant higher than the percentage observed in normal blastocysts. The frequency of UPD in 3PN-sourced blastocysts was 7.69%, which is significantly higher than that in normal blastocysts. This study provides the first systematic genome-wide profile of UPD in discarded morphologically abnormal embryos. Our results indicated that UPD may be a common phenomenon in discarded morphologically abnormal embryos and may be relevant to human embryonic self-correction.

No MeSH data available.