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
Source :: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2001 Oct 22; Vol. 183 Suppl 1, pp. S77-85.
Publication Year :: 2001
Abstract: Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are three monogenic disease which are caused by so-called dynamic mutations. These mutations are caused by triplet repeats inside or in the vicinity 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 experiences from 1995 to May 2000 with PGD for these three triplet repeat diseases.

Subjects :: Embryo Transfer
Female
Fluorescent Dyes
Humans
Male
Pregnancy
Sensitivity and Specificity
Sperm Injections, Intracytoplasmic
Fragile X Syndrome genetics
Huntington Disease genetics
Mutation genetics
Myotonic Dystrophy genetics
Polymerase Chain Reaction methods
Preimplantation Diagnosis
Trinucleotide Repeat Expansion genetics

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