Journal
ONCOTARGET
Volume 7, Issue 49, Pages 81839-81848Publisher
IMPACT JOURNALS LLC
DOI: 10.18632/oncotarget.13247
Keywords
triploidy; SNP array; next generation sequencing; MALBAC; preimplantation genetic diagnosis and screen
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Funding
- National Natural Science Foundation [31271605, 3150090202]
- Youth Innovation Fund of Zhengzhou University
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Triploidy occurred about 2-3% in human pregnancies and contributed to approximately 15% of chromosomally caused human early miscarriage. It is essential for preimplantation genetic diagnosis and screen to distinct triploidy sensitively. Here, we performed comparative investigations between MALBAC-NGS and MDA-SNP array sensitivity on triploidy detection. Self-correction and reference-correction algorism were used to analyze the NGS data. We identified 5 triploid embryos in 1198 embryos of 218 PGD and PGS cycles using MDA-SNP array, the rate of tripoidy was 4.17 parts per thousand in PGS and PGD patients. Our results indicated that the MDA-SNP array was sensitive to digyny and diandry triploidy, MALBAC-NGS combined with self and reference genome correction strategies analyze were not sensitive to detect triploidy. Our study demonstrated that triploidy occurred at 4.17% in PGD and PGS, MDA-SNP array could successfully identify triploidy in PGD and PGS and genomic DNA. MALBAC-NGS combined with self and reference genome correction strategies were not sensitive to triploidy.
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