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Fig. 4 | BMC Pediatrics

Fig. 4

From: A variant of RAG1 gene identified in severe combined immunodeficiency: a case report

Fig. 4

The expression of RAG1 in c.2147G>A (p.Arg716Gln) mutation. a WT and mutant fragments were cloned into pEGFP and phage expression vectors. Genomic DNA samples were collected after 293T cells transfection 48 hours, and mutation was confirmed by Sanger sequencing. The result showed recombinant vectors successfully introduced WT (upper) and mutant fragments (bottom). The red box showed the base mutation. b The relative mRNA levels of RAG1 were performed by q-PCR analysis. Obviously low expression of RAG1 in both pEGFP-RAG1-mut and phage-RAG1-mut samples compared to WT. Data are mean ± SD, * P<0.05. c The protein levels of RAG1 in WT and mutation. Western blot examination showed RAG1 slightly reduced in mutated groups (at the upper right band). However, the expression of internal protein GAPDH did not changed

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