دورية أكاديمية
أعرض في EDS

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.

التفاصيل البيبلوغرافية
العنوان: 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.
المؤلفون: 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.; Duke-NUS Medical School, Singapore 169857, Singapore., Chong SS; Preimplantation Genetic Diagnosis Centre, Department of Obstetrics and Gynaecology, National University Hospital, Singapore 119074, Singapore.; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.; Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.; Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital, Singapore 119074, Singapore.
المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 24; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 24.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI, [2000-
مواضيع طبية MeSH: Machado-Joseph Disease*/genetics , Machado-Joseph Disease*/diagnosis , Ataxin-3*/genetics , Trinucleotide Repeat Expansion*/genetics , Microsatellite Repeats*/genetics , Preimplantation Diagnosis*/methods, Humans ; Female ; Genetic Testing/methods ; Alleles ; Genotype ; Pregnancy ; Male ; Repressor Proteins
مستخلص: 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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معلومات مُعتمدة: HSDP 05/X01 Singapore Ministry of Health
فهرسة مساهمة: Keywords: multi-microsatellite haplotyping; preimplantation genetic testing for monogenic disorders; spinocerebellar ataxia type 3/Machado–Joseph disease; triplet-primed PCR
المشرفين على المادة: EC 3.4.19.12 (Ataxin-3)
EC 3.4.19.12 (ATXN3 protein, human)
0 (Repressor Proteins)
تواريخ الأحداث: Date Created: 20240810 Date Completed: 20240810 Latest Revision: 20240812
رمز التحديث: 20240813
مُعرف محوري في PubMed: PMC11311680
DOI: 10.3390/ijms25158073
PMID: 39125643
قاعدة البيانات: MEDLINE
الوصف
تدمد:1422-0067
DOI:10.3390/ijms25158073