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Journal of Assisted Reproduction and Genetics

Erschienen in:

29.04.2020 | Genetics

Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation

verfasst von: Yuqian Wang, Xiaohui Zhu, Zhiqiang Yan, Xu Zhi, Shuo Guan, Ying Kuo, Yanli Nie, Ying Lian, Jin Huang, Yuan Wei, Ping Liu, Rong Li, Jie Qiao, Liying Yan

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 5/2020

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Abstract

Purpose

Preimplantation genetic diagnosis (PGD) analysis can be challenging for couples who carry more than one genetic condition. In this study, we describe a new PGD strategy to select which embryo(s) to transfer for two clinically challenging cases. Both cases lack essential family members for linkage analysis including de novo mutation combined with reciprocal translocation.

Methods

Diverging from conventional method, we performed direct point mutation detection, quantitative analysis of gene copy number, combined with linkage analysis assisted by SNP information from single sperm (or polar bodies), thus establishing an all-in-one protocol for single embryonic cell preimplantation diagnosis for two co-existing genetic conditions (monogenic disease and chromosomal abnormality) on the NGS-based platform.

Results

Using this newly developed method, 15 embryos from two cases were screened, and two embryos were determined as free of the monogenic disease and specific chromosomal abnormalities created by the prospective father’s reciprocal translocations.

Conclusion

This novel PGD strategy could effectively select unaffected embryo(s) for couples affected with or carrying a monogenetic disease and a reciprocal chromosome translocation concurrently.

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Titel: Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation
verfasst von: Yuqian Wang
Xiaohui Zhu
Zhiqiang Yan
Xu Zhi
Shuo Guan
Ying Kuo
Yanli Nie
Ying Lian
Jin Huang
Yuan Wei
Ping Liu
Rong Li
Jie Qiao
Liying Yan
Publikationsdatum: 29.04.2020
Verlag: Springer US
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 5/2020
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-020-01753-2

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Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation