PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.
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.
Sermon
K
K
Centre for Medical Genetics, Dutch-speaking Brussels Free University, University Hospital and Medical School, Laarbeeklaan 101, 1090, Brussels, Belgium. lgensnk@az.vub.ac.be
Seneca
S
S
De Rycke
M
M
Goossens
V
V
Van de Velde
H
H
De Vos
A
A
Platteau
P
P
Lissens
W
W
Van Steirteghem
A
A
Liebaers
I
I
D004624:Embryo Transfer; D005260:Female; D005456:Fluorescent Dyes; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012680:Sensitivity and Specificity; D020554:Sperm Injections, Intracytoplasmic; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D005456:Fluorescent Dyes