Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (3)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Drüsedau, M.
Right arrow Articles by Herbergs, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Drüsedau, M.
Right arrow Articles by Herbergs, J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Molecular Human Reproduction, Vol. 10, No. 1, pp. 71-75, 2004
© European Society of Human Reproduction and Embryology 2004

Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)n repeat detection

M. Drüsedau1,3, J.C.F.M. Dreesen1, C. de Die-Smulders1, K. Hardy1, M. Bras2, J.C.M. Dumoulin2, J.L.H. Evers2, H.J.M. Smeets1, J.P.M. Geraedts1 and J. Herbergs1

Research Institute Growth & Development (GROW), 1Department of Clinical Genetics and 2Department of Obstetrics & Gynaecology, Academic Hospital Maastricht, Maastricht, The Netherlands

3 To whom correspondence should be addressed at: Academic Hospital Maastricht, Department of Clinical Genetics, P.O.Box 5800, 6202 AZ Maastricht, The Netherlands. e-mail: Marion.Drusedau{at}gen.unimaas.nl

Spinocerebellar ataxia 3 (SCA3) is an autosomal dominant neurodegenerative disorder characterized by variable expression and a variable age of onset. SCA3/MJD (Machado–Joseph disease) is caused by an expansion of a (CAG)n repeat in the MJD1 gene on chromosome 14q32.1. A single cell PCR protocol has been developed for preimplantation genetic diagnosis (PGD) of SCA3 to select unaffected embryos on the basis of the CAG genotype. Single leukocytes and blastomeres served as a single cell amplification test system to determine the percentage of allelic drop-out (ADO) and PCR efficiency. Out of 105 tested heterozygous single leukocytes, 103 (98.1%) showed a positive amplification signal, while five cells (4.9%) showed ADO. Amplification in single blastomeres was obtained in 13 out of a total of 14, and ADO was observed in two out of the 13 single blastomeres. PGD of SCA3 was performed in a couple with paternal transmission of the SCA3 allele. Seven embryos were available for biopsy, all biopsied blastomeres showed amplification and no ADO occurred. One embryo was diagnosed as affected whereas six embryos were diagnosed as unaffected. Two unaffected embryos were transferred and resulted in a singleton pregnancy and the birth of a healthy girl.

Key words: Key words: allelic drop-out/preimplantation genetic diagnosis/spinocerebellar ataxia 3/triplet repeats


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Mol Hum ReprodHome page
J. Dreesen, M. Drusedau, H. Smeets, C. de Die-Smulders, E. Coonen, J. Dumoulin, M. Gielen, J. Evers, J. Herbergs, and J. Geraedts
Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice
Mol. Hum. Reprod., October 1, 2008; 14(10): 573 - 579.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.