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Preimplantation Genetic Testing of Achondroplasia by Two Haplotyping Systems: Short Tandem Repeats and Single Nucleotide Polymorphism

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Abstract

Here, we present the successful application of two different preimplantation genetic testing for monogenic diseases (PGT-M) methods for a couple facing the genetic risk of Achondroplasia (ACH). The first preimplantation genetic haplotyping (PGH) cycle was based on short tandem repeats (STRs) and 8 STRs were chosen. The multiple displacement amplification (MDA) products were analyzed using the informative STR loci and PCR-restriction enzyme digestion of FGFR3. A healthy girl was delivered. Two years later, we performed the second PGT-M cycle for this couple with a newly established PGT-M platform based on next generation sequencing (NGS). Haplotype analysis was established by a selection of several informative single nucleotide polymorphisms (SNPs). Preimplantation genetic testing for aneuploidy (PGT-A) was also performed on embryos with normal FGFR3 genotype. Another healthy girl was born. PGH system could be established using STRs or NGS-SNP systems. The NGS-SNP system could detect more sites and simultaneously performs PGT-A with an automated operation.

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Acknowledgements

The study was supported by National Key Research and Development Program (20 16YFC1000205) and Guangdong Provincial Key Laboratory of Reproductive Medicine (2012A0614000 03).

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Authors and Affiliations

  1. Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510080, China

    Xiaoting Shen, Dongjia Chen, Yan Xu, Yu Fu & Canquan Zhou

  2. Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, Guangdong, 510080, China

    Xiaoting Shen, Dongjia Chen, Yan Xu, Yu Fu & Canquan Zhou

Authors
  1. Xiaoting Shen
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  2. Dongjia Chen
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  3. Yan Xu
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  4. Yu Fu
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  5. Canquan Zhou
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Corresponding author

Correspondence to Canquan Zhou.

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Xiaoting Shen, Dongjia Chen and Yan Xu contributed equally to this work and all should be considered as first authors

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Shen, X., Chen, D., Xu, Y. et al. Preimplantation Genetic Testing of Achondroplasia by Two Haplotyping Systems: Short Tandem Repeats and Single Nucleotide Polymorphism. BioChip J 13, 165–173 (2019). https://doi.org/10.1007/s13206-018-3207-y

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  • DOI: https://doi.org/10.1007/s13206-018-3207-y

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