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Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)n Repeat Expansion.
Lian, Mulias; Tan, Vivienne J; Taguchi, Riho; Zhao, Mingjue; Phang, Gui-Ping; Tan, Arnold S; Liu, Shuling; Lee, Caroline G; Chong, Samuel S.
Afiliación
  • Lian M; Preimplantation Genetic Diagnosis Centre, Department of Obstetrics and Gynaecology, National University Hospital, Singapore 119074, Singapore.
  • Tan VJ; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
  • Taguchi R; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
  • Zhao M; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
  • Phang GP; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
  • Tan AS; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
  • Liu S; KKIVF Centre, Reproductive Medicine, KK Women's & Children's Hospital, Singapore 229899, Singapore.
  • Lee CG; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117596, Singapore.
  • Chong SS; Duke-NUS Medical School, Singapore 169857, Singapore.
Int J Mol Sci ; 25(15)2024 Jul 24.
Article en En | MEDLINE | ID: mdl-39125643
ABSTRACT
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a neurodegenerative disorder caused by the ATXN3 CAG repeat expansion. Preimplantation genetic testing for monogenic disorders (PGT-M) of SCA3/MJD should include reliable repeat expansion detection coupled with high-risk allele determination using informative linked markers. One couple underwent SCA3/MJD PGT-M combining ATXN3 (CAG)n triplet-primed PCR (TP-PCR) with customized linkage-based risk allele genotyping on whole-genome-amplified trophectoderm cells. Microsatellites closely linked to ATXN3 were identified and 16 markers were genotyped on 187 anonymous DNAs to verify their polymorphic information content. In the SCA3/MJD PGT-M case, the ATXN3 (CAG)n TP-PCR and linked marker analysis results concurred completely. Among the three unaffected embryos, a single embryo was transferred and successfully resulted in an unaffected live birth. A total of 139 microsatellites within 1 Mb upstream and downstream of the ATXN3 CAG repeat were identified and 8 polymorphic markers from each side were successfully co-amplified in a single-tube reaction. A PGT-M assay involving ATXN3 (CAG)n TP-PCR and linkage-based risk allele identification has been developed for SCA3/MJD. A hexadecaplex panel of highly polymorphic microsatellites tightly linked to ATXN3 has been developed for the rapid identification of informative markers in at-risk couples for use in the PGT-M of SCA3/MJD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Machado-Joseph / Repeticiones de Microsatélite / Diagnóstico Preimplantación / Expansión de Repetición de Trinucleótido / Ataxina-3 Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Suiza
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Machado-Joseph / Repeticiones de Microsatélite / Diagnóstico Preimplantación / Expansión de Repetición de Trinucleótido / Ataxina-3 Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Suiza