Molecular Human Reproduction, Vol 4, 978-984, Copyright © 1998 by Oxford University Press
A De Vos, K Sermon, H Van de Velde, H Joris, M Vandervorst, W Lissens, G Mortier, P De Sutter, A Lofgren, C Van Broeckhoven, I Liebaers and A Van Steirteghem
Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant
peripheral neuropathy characterized by slow progressive distal muscle
wasting and weakness, and decreased nerve conduction velocities. Most CMT1A
cases (>98%) are caused by a duplication of a 1.5 Mb region on the short
arm of chromosome 17 containing the PMP22 gene. A couple with a previous
history of CMT followed by termination of pregnancy was referred to our
centre for preimplantation genetic diagnosis (PGD). The husband carries the
CMT1A duplication which can be detected by polymerase chain reaction (PCR)
analysis using polymorphic (CA)n markers localized within the duplication.
PCR amplification of genomic DNA of the parents-to-be with one of the two
primers labelled with fluorescein, followed by automated laser fluorescence
(ALF) gel electrophoresis of the amplified fragments allows the distinction
between both genotypes. Embryos obtained after intracytoplasmic sperm
injection (ICSI) were evaluated for the presence of the normal allele of
the father. PCR with single Epstein-Barr virus-transformed lymphoblasts and
blastomeres resulted in 91.4 and 93.5% amplification efficiency
respectively, whereas none of the blank controls gave a positive signal.
Allele drop-out (ADO) was observed in eight out of 32 lymphoblasts (25%) or
in five out of 21 blastomeres (23.8%). However, within this set-up ADO will
never lead to transfer of an affected embryo. A first ICSI-PGD cycle did
not result in embryo transfer for the patient. A second cycle involved 10
mature oocytes of which eight were fertilized, resulting in five embryos
for biopsy. Two unaffected embryos were available for transfer and resulted
in a singleton pregnancy. The genotype of the fetus has been confirmed
healthy by chorionic villus sampling.
JOURNAL ARTICLE
Pregnancy after preimplantation genetic diagnosis for Charcot-Marie- Tooth disease type 1A
Centre for Reproductive Medicine, University Hospital, Dutch-speaking Brussels Free University (Vrije Universiteit Brussel), Belgium.
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