Comparative study of single-nucleotide polymorphism array and next generation sequencing based strategies on triploid identification in preimplantation genetic diagnosis and screen
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Jiawei Xu1,*, Wenbin Niu1,*, Zhaofeng Peng1, Xiao Bao1, Meixiang Zhang1, Linlin Wang1, Linqing Du1, Nan Zhang1, Yingpu Sun1
1The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China
*These authors have contributed equally to this work
Yingpu Sun, email: [email protected]
Keywords: triploidy, SNP array, next generation sequencing, MALBAC, preimplantation genetic diagnosis and screen
Received: September 23, 2016 Accepted: October 14, 2016 Published: November 09, 2016
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‰ 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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