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Fig. 5 | BMC Medical Genomics

Fig. 5

From: Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma

Fig. 5

(a) Schematic representation of exons 7 to 9 of the RET parental gene and retrocopy. Rectangles denote exons, full line denotes introns. The arrow marks the location of the exon 8 p.G548V mutation. The horizontal arrows indicate the location and orientation of primers used. (b) Prevalence of the p.G548V mutation on MTC samples, showing that 27,9% of all MTC tested samples are positive. (c) Representative electropherogram showing the presence of the mutation both in heterozygosis and homozygosis. The mutations consist of a genomic 1644G > T change. (d) Sequencing of DNA amplification from parental RET gene and its retrocopy from MZ-CRC-1 cell line showing the p.G548V mutation present only in the retrocopy

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