2011
DOI: 10.1089/gtmb.2010.0237
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Diagnosis of Spinal Muscular Atrophy Via High-Resolution Melting Analysis Symmetric Polymerase Chain Reaction Without Probe: A Screening Evaluation forSMN1Deletions and Intragenic Mutations

Abstract: HRMA is a simple but versatile tool to add to the existing arsenal of diagnostic techniques that could aid clinicians/researchers in diagnosing SMA. However, as we demonstrate in the present study, the design and selection of primers is of monumental importance in ensuring the successful application of HRMA to screening for pathogenic variants.

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Cited by 9 publications
(5 citation statements)
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“…Approximately 95% of SMA patients carry homozygous deletion of the SMN1 gene, and the remaining 5% of the affected individuals may be compound heterozygote for a deleted gene and an intragenic mutation on the other SMN1 gene (Lefebvre et al, 1995;Rodrigues et al, 1995;Kang et al, 2009;Yoon et al, 2010;Morikawa et al, 2011).…”
Section: Introductionmentioning
confidence: 99%
“…Approximately 95% of SMA patients carry homozygous deletion of the SMN1 gene, and the remaining 5% of the affected individuals may be compound heterozygote for a deleted gene and an intragenic mutation on the other SMN1 gene (Lefebvre et al, 1995;Rodrigues et al, 1995;Kang et al, 2009;Yoon et al, 2010;Morikawa et al, 2011).…”
Section: Introductionmentioning
confidence: 99%
“…Two of the melting methods amplify a small amplicon around the informative SNV and can identify many copy number ratios (33,34 ). However, a single copy at each locus (carrier) cannot be distinguished from 2 copies at each locus (normal).…”
Section: Discussionmentioning
confidence: 99%
“…4 High-resolution DNA melting analysis (HRMA) HRMA has been used to evaluate individuals for SMA in screening and diagnostic applications. 3,119,120 The difference in SMN1 and SMN2 copy number present in the specimens will create various unique HRMA profiles, distinguishing a heterozygous PCR product from a homozygous product. Therefore, the SMN1 homozygous deletions can be readily identified since these samples will generate the same profile independent of SMN2 copy number.…”
Section: Liquid Microbead Assaysmentioning
confidence: 99%