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Fig. 2 | BMC Medical Genetics

Fig. 2

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

Fig. 2

MLPA analysis in family N. Detection of the MLH1 exons 4-19 deletion by MLPA. The panel shows electropherograms and results of the MLPA analyses. Profiles corresponding to MLH1 exons and control probes were obtained from the overlap of a control sample (blue) with a proband sample (red). The numbers in the top figure refer to MLH1 exons recognized by each MLPA probe. The arrowheads and numbers show the deleted MLH1 exons. “c” indicates control peaks resulting from the amplification of probes located in different chromosomes. Deletions are detected by a 0.5-fold decrease in the peak height compared with that of a normal control. MLPA results demonstrated a decrease of peaks corresponding to MLH1 exons 4-19

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