[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.

CONCLUSION

Restriction endonucleases digestion of PCR products is an efficient and rapid method for diagnosis of SMA.