A Genetic Variant in GPR126 Causing a Decreased Inclusion of Exon 6 Is Associated with Cartilage Development in Adolescent Idiopathic Scoliosis Population

Figure 2

The exon trapping vector pCAS vector v1.0 used to assay SNP function. (a) The pCAS vector v1.0 contains 2 exons (exon A, exon B) and a functional intron. Ancestral or mutant plasmids containing exon 6, 437 bp of 5′intron 6, 446 bp of 3′intron 6 and exon7, and harboring either the G or A allele was separately cloned into the Bam HI and Mlu I clone site of the pCAS vector v1.0. Exon A: 73 bp; exon B: 621 bp; exon 6: 84 bp; exon7: 86 bp. (b) Agarose gel electrophoresis of RT-PCR products. Ancestral type: rs41289839-G; Mutant type: rs41289839-G; Lane 1: Marker; Lane 2: Mock; Lane 3: 694 bp (73bp+621bp); Lane 4: 864 bp (73 bp+84 bp+86 bp+621 bp), 780 bp (73 bp+86 bp+621 bp); Lane 5: 864 bp, 780 bp. There was a significant difference in the ratio of to between Lane 4 and Lane 5. Ratio: /. (c) The expression levels of GPR126- in ancestral type group and mutant type group were detected by RT-qCPR.

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