NDLI: Intergenerational Instability of the Expanded CTG Repeat in the DMPK Gene: Studies in Human Gametes and Preimplantation Embryos

Content Provider	PubMed Central
Author	Temmerman, Nele De Sermon, Karen Seneca, Sara De Rycke, Martine Pierre, Hilven Willy, Lissens Van, Steirteghem André Liebaers, Inge
Copyright Year	2004
Abstract	The CTG repeat at the 3′ untranslated region of the dystrophia myotonica protein kinase (DMPK) gene shows marked intergenerational and somatic instability in patients with myotonic dystrophy (DM1), when the repeat is expanded to more than ∼55 repeats. Intensive research has yielded some insights into the timing and mechanism of these intergenerational changes: (1) increases in expansion sizes occur during gametogenesis but probably not during meiosis, (2) the marked somatic mosaicism becomes apparent from the 2nd trimester of development onward and increases during adult life, and (3) DNA repair mechanisms are involved. We have performed preimplantation genetic diagnosis for DM1 since 1995, which has given us the unique opportunity to study the expanded CTG repeat in affected embryos and in gametes from affected patients. We were able to demonstrate significant increases in the number of repeats in embryos from female patients with DM1 and in their immature and mature oocytes, whereas, in spermatozoa and embryos from male patients with DM1, smaller increases were detected. These data are in concordance with data on other tissues from adults and fetuses and fill a gap in our knowledge of the behavior of CTG triplet expansions in DM1.
Related Links	http://dx.doi.org/10.1086/422762
Ending Page	329
Page Count	5
Starting Page	325
File Format	PDF
ISSN	00029297
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	2
Volume Number	75
Language	English
Publisher	The American Society of Human Genetics
Publisher Date	2004-08-01
Access Restriction	Open
Rights Holder	The American Society of Human Genetics
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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