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Fig. 4 | BMC Medical Genetics

Fig. 4

From: MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years

Fig. 4

Restriction EcoRV enzyme digestion and PCR. a. Schematic illustration of the wild-type and mutant alleles of MLH1. Exons are numbered. The location of the intronic restriction sites (E, EcoRV) is indicated. The gray line indicates the recombination site. Primary PCR was performed with the gene-specific primer 5′-AGAAAGAAGATCTGGATATTGTATGTGA-3′. The short line indicates the normal allele obtained by restriction enzyme digestion. P: primer. b. The PCR product obtained by restriction enzyme digestion of the wild-type allele was 808 bp (lane 1). The PCR product obtained by restriction enzyme digestion of the mutant allele was 1164 bp (lane 2). M: molecular weight marker ladder

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