Preimplantation genetic diagnosis of spinal muscular atrophy.

Content Provider	Semantic Scholar
Author	Dreesen, Jos C. F. M. Bras, Maaike Die-Smulders, Christine E. M. De Dumoulin, John C. M. Cobben, Jan Maarten Evers, Johannes L. H. Smeets, Hubert J. M. Geraedts, Joep P. M.
Copyright Year	1998
Abstract	After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homologous SMN copy gene complicates the detection of exon 7 deletions. This paper describes the adjustment and evaluation of an established SMN exon 7 polymerase chain reaction (PCR) protocol at the single cell level, and the first preimplantation genetic diagnosis (PGD) of SMA with this PCR protocol. To determine PCR efficiency and allelic loss, 200 leukocytes of normal individuals, SMA carriers and patients, and 25 blastomeres were tested. The PCR efficiency of the SMN exon 7 and the adjacent copy gene sequence, tested in the leukocytes, were 90% and 91% respectively. No allelic loss was detected. One out of 25 blastomeres tested revealed a negative PCR signal for the SMN exon 7 sequence. All 25 showed the copy gene sequence. PGD of SMA was offered to a couple with an affected child homozygous for the SMN exon 7 deletion. After intracytoplasmic sperm injection, four and five embryos could be genotyped for the SMN exon 7 in two cycles respectively. After embryo transfer in the second PGD cycle an ongoing gemelli pregnancy was achieved. This study demonstrates that PGD for SMA is feasible when a previous child is homozygous for the SMN exon 7 deletion.
Starting Page	97
Ending Page	108
Page Count	12
File Format	PDF HTM / HTML
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Alternate Webpage(s)	http://molehr.oxfordjournals.org/content/4/9/881.full.pdf
PubMed reference number	9783849v1
Volume Number	4
Issue Number	9
Journal	Molecular human reproduction
Language	English
Access Restriction	Open
Subject Keyword	Atrophic Deletion Mutation Embryo transfer (procedure) Epilepsy, Partial, Motor Homozygote Juvenile Spinal Muscular Atrophy Loss of Heterozygosity Motor Neurons Muscle Muscular Dystrophy Muscular Dystrophy, Duchenne Neuromuscular Diseases Patients Polymerase Chain Reaction Preimplantation Diagnosis Sperm Injections, Intracytoplasmic Spermatozoa Cell Count Structure of blastomere
Content Type	Text
Resource Type	Article