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

Xiaoting Shen; DongJia Chen; Yan Xu; Yu Fu; Canquan Zhou

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자료유형: 학술저널

저자정보: Xiaoting Shen (Sun Yat-sen University) DongJia Chen (Sun Yat-sen University) Yan Xu (Sun Yat-sen University) Yu Fu (Sun Yat-sen University) Canquan Zhou (Sun Yat-sen University)

저널정보: 한국바이오칩학회 BioChip Journal BioChip Journal Vol.13 No.2

발행연도: 2019.1

수록면: 165 - 173 (9page)

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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.

#Achondroplasia (ACH) #Preimplantation genetic testing for monogenic diseases (PGT-M) #Multiple displacement amplification (MDA) #Haplotype analysis #Next generation sequencing (NGS)

참고문헌 (24)

참고문헌 신청

Rousseau, F. / 1994 / Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia / Nature 371:252~254

Shiang, R. / 1994 / Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia / Cell 78:335~342

Moutou, C. / 2003 / Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties / Hum. Reprod 18:509~514

Di Rocco, F. / 2014 / FGFR3mutation causes abnormal membranous ossification in achondroplasia / Hum. Mol. Genet 23:2914~2925

Altarescu, G. / 2008 / Successful polar body-based preimplantation genetic diagnosis for achondroplasia / Reprod. BioMed. Online 16:276~282

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