Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott–Aldrich syndrome

Table 1 Relative expression of WAS gene containing the first three exons by RT-qPCR

Number	Group	Relative expression of partial WAS gene	The average value of relative expression
1	Empty plasmid^①	1.000	0.957
	Empty plasmid	0.982
	Empty plasmid	0.889
2	Wild-type^②	1636.805	1681.849
	Wild-type	1694.527
	Wild-type	1714.216
3	c.158 T > C	2568.422	2498.951
	c.158 T > C	2418.673
	c.158 T > C	2509.759
4	c.273 + 14C>T	2115.329	2055.928
	c.273 + 14C>T	1942.008
	c.273 + 14C>T	2110.448
5	Combined mutation^③	891.444	881.948
	Combined mutation	887.334
	Combined mutation	867.067

①: No target gene fragment was inserted; ②: gDNA of WAS including exon 1, 2, 3 and intron 1 and 2 (1849 bp) as the target gene was inserted; ③: The first three exon of gDNA containing the two mutations (c.158 T > C; c.273 + 14C>T) was inserted

ISSN: 1750-1172