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

• Published in: International journal of molecular sciences Vol. 25; no. 15; p. 8073
• Main Authors: Lian, Mulias, Tan, Vivienne J, Taguchi, Riho, Zhao, Mingjue, Phang, Gui-Ping, Tan, Arnold S, Liu, Shuling, Lee, Caroline G, Chong, Samuel S
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 24.07.2024
• Subjects: Alleles; Ataxia; Ataxin-3 - genetics; Biopsy; Embryos; Female; Genetic testing; Genetic Testing - methods; Genomes; Genotype; Haplotypes; Humans; In vitro fertilization; Machado-Joseph Disease - diagnosis; Machado-Joseph Disease - genetics; Male; Microsatellite Repeats - genetics; multi-microsatellite haplotyping; Polymorphism; Pregnancy; Preimplantation Diagnosis - methods; preimplantation genetic testing for monogenic disorders; Repressor Proteins; spinocerebellar ataxia type 3/Machado–Joseph disease; Trinucleotide Repeat Expansion - genetics; triplet-primed PCR; White people; multi-microsatellite haplotyping; triplet-primed PCR; preimplantation genetic testing for monogenic disorders; spinocerebellar ataxia type 3/Machado–Joseph disease

Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a neurodegenerative disorder caused by the 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 determinati...