title: Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy.
abstract: 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.
authors.affiliation: 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.
authors.forename: Kai Chen
authors.initials: KC
authors.lastname: Wang
authors.affiliation: d Department of Obstetrics & Gynecology , E-Da Hospital , Kaohsiung , Taiwan.
authors.forename: Chi Chang
authors.initials: CC
authors.lastname: Chang
authors.affiliation: e Research Institute for Electronic Science, Hokkaido University , Sapporo, Hokkaido , Japan.|f Department of Medical Research and Education , Taipei Veterans General Hospital , Taipei , Taiwan.
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Chang
authors.affiliation: g MBGEN Biosciences , Taipei , Taiwan.
authors.forename: Szu-Hsien
authors.initials: SH
authors.lastname: Wang
authors.affiliation: g MBGEN Biosciences , Taipei , Taiwan.
authors.forename: Chien-Kuan
authors.initials: CK
authors.lastname: Chiang
authors.affiliation: 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.
authors.forename: Ching-Piao
authors.initials: CP
authors.lastname: Tsai
mesh_terms: D005091:Exons; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein
keywords: High-resolution melting analysis; SMA; SMN1; SMN2