Skip to main content
. 2016 Nov 29;107(11):1677–1686. doi: 10.1111/cas.13073

Figure 6.

Figure 6

Multiplex ligation‐dependent probe amplification (MLPA) analysis of the PMS2 gene. In (b) and (c), the underlined number 12 indicates the IVS12 of the PMS2 or the PMS2CL gene, where the probes were designed to anneal. Numbers followed by@ and in red※ indicate the position of the probes hybridizing the consensus sequences of the PMS2 and PMS2CL genes and the signals indicate the total copy numbers of the PMS2 and PMS2CL genes in exons 12, 13, 14 and 15. (a) The PMS2 downstream exon 11 sequence has close homology with PMS2CL paralogues and gene conversion frequently occurred between PMS2 and PMS2CL. Ninety‐six subjects were analyzed by MLPA and the copy numbers of the PMS2,PMS2CL and consensus sequences between PMS2 and PMS2CL were evaluated from exons 11 to 15. In normal subjects, the copy numbers of the consensus sequences were 4 (green box) and, in the case of a genomic deletion, the total copy number decreased to 3 (yellow box). (b) The genomic deletion of PMS2 exons 12–15 was detected in subject No. 4. (c) The genomic deletion of PMS2 exons 11–15 was detected in subject No. 5.