A single strand conformation polymorphism-based carrier test for spinal muscular atrophy

Genetic Testing
S SempriniG Novelli

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive disorder with a newborn prevalence of 1 in 10,000, and a carrier frequency of 1 in 40-60 individuals. The SMA locus has been mapped to chromosome 5q11.2-13. The disease is caused by a deletion of the SMN gene, often encompassing other genes and microsatellite markers. The SMN gene is present in two highly homologous copies, SMN1 and SMN2, differing at five nucleotide positions. Only homozygous SMN1 mutations cause the disease. The sequence similarity between the SMN1 and SMN2 genes can make molecular diagnosis and carrier identification difficult. We developed a sensitive and reliable molecular test for SMN1 carrier identification, by setting up a nonradioactive single strand conformation polymorphism (SSCP)-based method, which allows for the quantification of the amount of the SMN1 gene product with respect to a control gene. The assay was validated in 56 obligate (ascertained) carriers and 20 (ascertained) noncarriers. The sensitivity of the test is 96.4%, and its specificity, 98%. In addition, 6 of 7 SMA patients without homozygous deletions presented with a heterozygous deletion, suggesting a concomitant undetected point mutation on the nondeleted SMN1 allele. Therefor...Continue Reading

References

Jan 1, 1992·Neuromuscular Disorders : NMD·T L Munsat, K E Davies
Aug 14, 1996·Biochimica Et Biophysica Acta·K E MorrisonA J Brookes
Jul 1, 1997·American Journal of Human Genetics·A H Burghes

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Citations

Feb 20, 2004·Journal of Obstetric, Gynecologic, and Neonatal Nursing : JOGNN·Jennifer A MarkowitzKenneth H Fischbeck
Oct 13, 2006·Electrophoresis·Christa N Hestekin, Annelise E Barron
Jul 5, 2019·The International Journal of Neuroscience·Gaurava Srivastava, Preeti Srivastava

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