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

BMC Neurology

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

	MLPA + multiplex PCR/Real-time PCR (%)				Sequencing/Real-time PCR (%)				χ ²	P value*
	+/+^a	−/+ ^b	+/− ^c	−/− ^d	+/+ ^e	−/+ ^f	+/− ^g	−/− ^h	χ ²	P value*
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

^aThere were exons deletion of NAIP or GTF2H2 detected for both methods, meaning true positive for real-time PCR compared with MLPA + multiplex PCR
^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
^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
^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
^eThere was homozygous mutation on SMN c.840 C > T for both methods, meaning true positive for real-time PCR compared with DNA sequencing
^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
^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
^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
*McNemar test

ISSN: 1471-2377