In our laboratory, different results were obtained in the MLPA test performed for a gametic mutation on the peripheral blood samples belonging to the same patient with an interval of one year. We showed that the samples belong to the same person by doing STR study. We also saw by sequence analysis that there were no variants in the binding sites of MLPA probes. Anyone having similar problem? And do you have any suggestions to clear up this situation?
It might help to know what the mlpa is detecting..ploidy?..presence of deletions? and the nature of the discordancy. Are your no template controls negative for amplification. As a wild guess is it possible that the patient has had a blood transfusion?
Hi Ajlan Tukun
Could you provide more details about your methods?
Which MLPA probe / STR kit you have used? For MLPA, did you run three+ negative samples in the same experiment?
For further assistance, you can share the MLPA profile of your sample.
Ajlan Tukun The MLPA kits are procured from MRC Holland but usually there are no problems in amplification if your DNA is good. One should check the DNA quality and then put up the reaction. It is better to run samples in duplicate along with a control positive sample if available. The company people are also available for trouble-shooting; and you can communicate with them on e-mail with the necessary photographs of the results. We use regularly the P450 kit for deletion/duplication syndromes in our lab.
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