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March 26, 2026The Indian Journal of Medical ResearchOpen Access

LNA-based PCR assay achieves 100% concordance with MLPA for diagnosing SMA and identifying carriers.

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Why the study?

Commercial SMA kits are typically probe-based, but LNA-modified primers provide high sensitivity and specificity at lower cost, motivating the development of an LNA-based assay for SMA diagnosis and screening.

Does an LNA-based PCR assay accurately detect SMN1 and SMN2 copy numbers for SMA diagnosis and screening compared to MLPA?

Population

31 patients diagnosed with SMA, 37 confirmed healthy controls, and 47 carrier parents

Comparison

LNA-based PCR assay vs multiplex ligation-dependent probe amplification (MLPA)

Key result

An LNA-based PCR assay accurately detected SMN1 and SMN2 presence, absence, and copy numbers, showing full concordance with MLPA results for diagnosing SMA and identifying carriers.

Authors

GAGökçe Güllü AmuranBPBüşra PolatDTDilşad Türkdoğan

Discussion

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Overview

Supports broader SMA screening via probe-free LNA-PCR; extends reliable diagnostic alternatives to MLPA.

Key Points

  • This research aims to develop a cost-effective LNA-based assay for diagnosing spinal muscular atrophy (SMA).
  • Collected peripheral blood samples from SMA patients, healthy controls, and carrier parents.
  • Designed 3′ LNA-modified primers for the SMN1, SMN2, and β-actin genes.
  • Conducted PCR using 20 ng of template DNA and validated products through Sanger sequencing.
  • Compared ΔCt values with multiplex ligation-dependent probe amplification (MLPA).
  • LNA primers effectively amplified SMN1, SMN2, and β-actin under uniform PCR conditions.
  • PCR results fully matched MLPA results for detection of SMN variants.
  • The assay accurately determined the presence, absence, and copy numbers of SMN1 and SMN2.

Study Design

Type

Observational (n=115)

Structured PICO

Does an LNA-based PCR assay accurately detect SMN1 and SMN2 copy numbers for SMA diagnosis and screening compared to MLPA?

P
Population
31 patients diagnosed with SMA, 37 confirmed healthy controls, and 47 carrier parents
I
Intervention
LNA-based PCR assay for SMN1, SMN2, and β-actin genes
C
Comparator
Multiplex ligation-dependent probe amplification (MLPA)
O
Outcome
Detection of SMN1 and SMN2 presence, absence, and copy numberssurrogate

An LNA-based PCR assay without probes can accurately detect SMN1 and SMN2 copy numbers, offering a reliable method for SMA diagnosis and carrier screening.

Cite This Study

Amuran et al. (2026) conducted an observational in Spinal muscular atrophy (SMA) (n=115). LNA-based PCR assay vs. Multiplex ligation-dependent probe amplification (MLPA) was evaluated on Concordance of PCR results and ΔCt values with MLPA results. An LNA-based PCR assay accurately detected SMN1 and SMN2 presence, absence, and copy numbers, showing full concordance with MLPA results for diagnosing SMA and identifying carriers.

synapsesocial.com/papers/69c4cc98fdc3bde448917fc6https://doi.org/10.25259/ijmr_2408_2025
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A rapid LNA-PCR assay from blood lysate without DNA purification for the diagnosis of homozygous SMN1 deletion in spinal muscular atrophy2026
  2. 2A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay2024 · 3 citations
  3. 3A new line method; A direct test in spinal muscular atrophy screening for DBS2023 · 2 citations
  4. 4A Single-Tube Nested PCR Method for SMN1 Deletion Detection in Spinal Muscular Atrophy2026
  5. 5Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy2016 · 10 citations