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Fig. 3 | BMC Medical Genetics

Fig. 3

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

Fig. 3

MLH1 deletion site and PCR. The breakpoint for genomic deletion was detected by breakpoint-specific PCR. Schematic illustration of the wild-type and mutant alleles of MLH1 genomic deletions. Exons are numbered. The grey line indicates the recombination site. a. The sequence of the forward PCR primer (FP) was 5′-TTTAGCCAAGTATTTCTACCTATGG-3′ and designed in MLH1 intron 3, while that of the reverse primer (RP) was 5′-TCAAGCCTCCTGTTATGAAGA-3′ and designed in LRRFIP2 intoron 16. b. An amplified DNA fragment of 612 bp was obtained in the analyses of genomic DNA of the proband (lane 1) and her daughter (lane 2), while no amplification products were obtained from normal genomic DNA (lane 3). M: molecular weight marker ladder

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