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J Neurogenet. 2015;29(2-3):113-6. doi: 10.3109/01677063.2015.1033098. Epub 2015 Apr 20.

Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy.

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a Department of Neurology , Cheng Hsin General Hospital , Taipei , Taiwan.
b Neurological Institute, Taipei Veterans General Hospital , Taipei , Taiwan.
c School of Medicine, National Yang-Ming University , Taipei , Taiwan.
d Department of Obstetrics & Gynecology , E-Da Hospital , Kaohsiung , Taiwan.
e Research Institute for Electronic Science, Hokkaido University , Sapporo, Hokkaido , Japan.
f Department of Medical Research and Education , Taipei Veterans General Hospital , Taipei , Taiwan.
g MBGEN Biosciences , Taipei , Taiwan.


Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by the homozygous absence of the survival motor neuron gene 1 (SMN1). SMN2, a copy gene, influences the severity of SMA. Several assays have been described for molecular diagnosis or carrier screening of SMA. A newly developed tool based on a high-resolution melting analysis (HRMA) that enables high-throughput screening without sophisticated protocols but low costs reveals itself to be powerful. We evaluate the performance of an HRMA-based kit for a carrier-screening test of SMA that was designed to detect the substitution of a single nucleotide in SMN1 exon 7. Carriers were identified in 453 participants by quantifying the SMN1 gene and compared with denaturing high-performance liquid chromatography (DHPLC) assay. An HRMA-based kit had a higher sensitivity (100%) for carrier testing than the DHPLC assay (93%), with the added advantage that some homozygous sequence alterations could be identified. The HRMA kit is a new, fast, and highly reliable quantitative test for the SMA molecular carrier test.


High-resolution melting analysis; SMA; SMN1; SMN2

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