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Figure 2 | BMC Medical Genomics

Figure 2

From: Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

Figure 2

Drawing and tissue distribution of GRAF1/OPHN-1-L isoforms. A. Schematic representation of the exon 20-to-22 of GRAF1/OPHN-1-L variant-1 -2 and -3. Variant-1 contains the whole exon 21 reported in NCBI GenBank as exon 21b, variant-2 has exon 21-I (reported in NCBI GenBank as exon 21a) while exclusion of exon 21 results in the variant-3. B. RT-PCR amplification of the GRAF1/OPHN-1-L transcripts (variant-1: 724 bp; variant-2: 559 bp; variant-3: 448 bp) was confirmed in neural e non neural tissues (Lm: lymphomonocytes, Cx: cerebral cortex, K: kidney) with the other following primers: F18-R22b. C. Tissue distribution of GRAF1/OPHN-1-L isoforms. RT-PCR amplification of the GRAF1/OPHN-1-L transcripts (variant-1: 633 bp; variant-2: 468 bp; variant-3: 357 bp) from various human organs and tissues with following primers: F19-R22. L: 100 bp ladder; Lm: lymphomonocytes, He: heart, Cx: cerebral cortex, S: spleen, SM: skeletal muscle, Li: liver, Lu: lung, K: kidney, T: testis, O: ovary, P: pancreas, H: hippocampus, MO: medulla oblongata, Cb: cerebellum, St: striatum, SC: spinal cord.

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