PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome

Authors
Sermon, K Seneca, S De Rycke, M Goossens, V Van de Velde, H De Vos, A Platteau, P Lissens, W Van Steirteghem, A Liebaers, I
Citation
K. Sermon et al., PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome, MOL C ENDOC, 183, 2001, pp. S77-S85
Citations number
13
Categorie Soggetti
Endocrinology, Nutrition & Metabolism
Journal title
MOLECULAR AND CELLULAR ENDOCRINOLOGY
ISSN journal
03037207 → ACNP
Volume
183
Year of publication
2001
Supplement
1
Pages
S77 - S85
Database
ISI
SICI code
0303-7207(20011022)183:<S77:PITLFT>2.0.ZU;2-M
Abstract
Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome ( FRAXA) are three monogenic disease which are caused by so-called dynamic mu tations. These mutations are caused by triplet repeats inside or in the vic inity of the gene which have the tendency to expand beyond the normal range thus disrupting the normal functioning of the gene. We describe here our e xperiences from 1995 to May 2000 with PGD for these three triplet repeat di seases. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.