[Successful application of preimplantation genetic testing combined with thirdgeneration sequencing for blocking hereditary spastic paraplegia].

For cases of genetic diseases with missing pedigree data, the application of third-generation sequencing and PGT-M technique can effectively block vertical transmission of SPAST gene mutation to the offspring, avoid pregnancy with an aneuploid embryo, and help families with autosomal dominant HSP obtain healthy offsprings.

Authors

Zhiming Zhou (ORCID: https://orcid.org/0000-0002-0851-3930)
Jian Ma (ORCID: https://orcid.org/0000-0001-8223-8327)
L Chen (ORCID: https://orcid.org/0009-0008-6355-3522)
Qi Qi (ORCID: https://orcid.org/0000-0003-4460-0713)
Bin Yao (ORCID: https://orcid.org/0000-0001-8639-9697)

Institutions

Nanjing University of Chinese Medicine (CN)
Second Affiliated Hospital of Nanjing Medical University (CN)
Nanjing Medical University (CN)

Publication Details

Journal: PubMed
Published: 2024-11-20
DOI: https://doi.org/10.12122/j.issn.1673-4254.2024.11.15
Primary Topic: Neurogenetic and Muscular Disorders Research
Type: article

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article

[Successful application of preimplantation genetic testing combined with thirdgeneration sequencing for blocking hereditary spastic paraplegia].

Zhiming Zhou, Jian Ma, L Chen, Qi Qi et al.

Nov 20, 2024

PubMed

Neurogenetic and Muscular Disorders Research

article

[Successful application of preimplantation genetic testing combined with thirdgeneration sequencing for blocking hereditary spastic paraplegia].

Zhiming Zhou, Jian Ma, L Chen, Qi Qi, Bin Yao

November 20, 2024article en

Abstract

For cases of genetic diseases with missing pedigree data, the application of third-generation sequencing and PGT-M technique can effectively block vertical transmission of SPAST gene mutation to the offspring, avoid pregnancy with an aneuploid embryo, and help families with autosomal dominant HSP obtain healthy offsprings.

PubMedVol. 44(11)

Nanjing University of Chinese Medicine (CN), Second Affiliated Hospital of Nanjing Medical University (CN), Nanjing Medical University (CN)

Neurogenetic and Muscular Disorders Research

DOI Open Access PDF OpenAlex

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