| Info. | Vol.13 - No.2 (2019.06.20) |
|---|---|
| Title | Preimplantation Genetic Testing of Achondroplasia by Two Haplotyping Systems: Short Tandem Repeats and Single Nucleotide Polymorphism |
| Authors | Xiaoting Shen†, Dongjia Chen†, Yan Xu†, Yu Fu & Canquan Zhou* |
| Institutions | Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510080, China Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, Guangdong 510080, China †Xiaoting Shen, Dongjia Chen and Yan Xu contributed equally to this work and all should be considered as first authors *Correspondence and requests for materials should be addressed to Canquan Zhou (zhoucanquan@mail.sysu.edu.cn) |
| 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. |
| Keyword | Achondroplasia (ACH), Preimplantation genetic testing for monogenic diseases (PGT-M), Multiple displacement amplification (MDA), Haplotype analysis, Next generation sequencing (NGS) |
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