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- Title
Preimplantation genetic diagnosis for detection of the CAG repeat expansion in spinocerebellar ataxia type 6.
- Authors
C.-C. Hung; S.-Y. Lin; C.-N. Lee; S.-U. Chen; Y.-N. Su
- Abstract
Aim: Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused of dominantly inherited ataxia due to abnormal expansions of a trinucleotide CAG repeat in exon 47 of the CACNA1A gene. The CAG repeat expansion lies within a CpG island, which translated into an elongated polyglutamine tract. Methods: We report a successful case of preimplantation genetic diagnosis (PGD) for SAC6 using polymerase chain reaction (PCR)-based assay followed by capillary electrophoresis analysis. We optimized and clinically applied the protocol, permitting nest PCR analysis to amplify a polymorphic region on the CACNA1A gene for a couple. The husband was carrying the expanded allele (9/20), and the wife had the normal alleles (10/11). Results: Among a total of nine embryos obtained after ovarian stimulation, a single blastomere per embryo at the six- to eight-cell stage was biopsied. This PGD method showed that three embryos were unaffected, which were selected for transfer, and one pregnancy was achieved. Finally, a healthy female baby with genotype 9/10 was delivered. Conclusions: To our knowledge, this is the first report in the literature describing successful PGD in families with SCA6. Therefore, the approach demonstrated in the present study can also be used in a large number of families with other types of trinucleotide repeats.
- Subjects
PREIMPLANTATION genetic diagnosis; NEURODEGENERATION; ATAXIA; TRINUCLEOTIDE repeats; GENETIC polymorphism research; GENETICS
- Publication
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, Vol 20, pS32
- ISSN
1472-6483
- Publication type
Article
- DOI
10.1016/S1472-6483(10)62345-0