Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. SMA is the second most common neuromuscular disorder and a common cause of infant disability and mortality. About 95% of patients have a homozygous deletion of exon7 in the survival motor neuron 1 gene. About 50 fetuses from 47 Chinese couples at risk of having an affected child were recruited in this study. The homozygous absence of exon7 of the survival motor neuron 1 gene was detected by both polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the quantitative PCR method. Short tandem repeat microsatellite markers linked to the survival motor neuron 1 gene were used to do linkage analysis. In conclusion, the quantitative PCR method results were as reliable as the results using the PCR-RFLP method in prenatal diagnosis. The quantitative PCR method can give more information on SMA carrier status that coincides with the result of linkage analysis.