[Genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by restriction endonucleases digestion of PCR product].
OBJECTIVE
To establish an efficient and rapid method for genetic diagnosis and prenatal diagnosis of spinal muscular atrophy (SMA).


METHODS
11 SMA patients were detected for the deletion and mutation in the survival motor neuron (SMN) gene by restriction endonucleases digestion of PCR products based on the difference between the two homologous copies of SMN. Linkage analysis was performed using four (CA) n repeats.


RESULTS
Both eon 7 and exon 8 were deleted in 10 patients. Only exon 7 deletion was found in one patient. Prenatal diagnosis of four SMA pedigrees was performed by restriction endonucleases digestion. SMN gene fragments of three fetuses were different from those of probands, and the SMN gene fragments of one fetus was the same as those of proband.


CONCLUSIONS
Restriction endonucleases digestion of PCR products is an efficient and rapid method for diagnosis of SMA.
Li
Q
Q
National Laboratory of Medical Genetics, Zhongnan University, Changsha 410078, China.
Ma
Y
Y
Pan
Q
Q
D017362:Cyclic AMP Response Element-Binding Protein; D004247:DNA / Q000235:genetics / Q000378:metabolism; D004262:DNA Restriction Enzymes / Q000378:metabolism*; D005260:Female; D005333:Fetus / Q000378:metabolism; D017353:Gene Deletion; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D004247:DNA; D004262:DNA Restriction Enzymes