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Table 3 The correlation of SMN, NAIP and GTF2H2 in different methods

From: New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

  MLPA + multiplex PCR/Real-time PCR (%) Sequencing/Real-time PCR (%) χ 2 P value*
+/+a −/+ b +/− c −/− d +/+ e −/+ f +/− g −/− h
NAIP (exon4) 9 (3.7) 3 (1.2) 0 229 (95.1)      3.0 0.0833
NAIP (exon5) 6 (2.5) 2 (0.8) 0 233 (96.7)      2.0 0.1573
GTF2H2 (exon10) 3 (1.2) 2 (0.8) 0 236 (98.8)      2.0 0.1573
SMN      70 (29.1) 0 1 (0.4) 170 (70.5) 1.0 0.3173
  1. aThere were exons deletion of NAIP or GTF2H2 detected for both methods, meaning true positive for real-time PCR compared with MLPA + multiplex PCR
  2. bThere was no exon deletion of NAIP or GTF2H2 detected by MLPA + multiplex PCR but an exon deletion detected by real-time PCR, meaning false positive for real-time PCR compared with MLPA + multiplex PCR
  3. cThere was exon deletion of NAIP or GTF2H2 detected by MLPA + multiplex PCR but not detected by real-time PCR, meaning false negative for real-time PCR compared with MLPA + multiplex PCR
  4. dThere was no exon deletion for both MLPA + multiplex PCR and real-time PCR, meaning true negative for real-time PCR compared with MLPA + multiplex PCR
  5. eThere was homozygous mutation on SMN c.840 C > T for both methods, meaning true positive for real-time PCR compared with DNA sequencing
  6. fThere was no homozygous mutation on SMN c.840 C > T detected by Sanger DNA sequencing but detected by real-time PCR, meaning false positive for real-time PCR compared with DNA sequencing
  7. gThere was homozygous mutation on SMN c.840 C > T for Sanger DNA sequencing but not detected by real-time PCR, meaning false negative for real-time PCR compared with DNA sequencing
  8. hThere were normal and heterozygous mutation on SMN c.840 C > T for both Sanger DNA sequencing and real-time PCR, meaning true negative for real-time PCR compared with DNA sequencing
  9. *McNemar test