What ways are there to find a mutation on a specific gene "in vivo"?
Que formas existen para detectar la presencia de una mutacion en un determinado gen sin necesidad de extraer el tejido de un paciente?
Dear Hector
There are different approach for mutation study, If you mind provide details about your question. What kind of mutation you meant? point mutation? deletion/duplication?
Anyway if the gene has hot spot or specific frequent mutation you may first check them. If you were lucky you did it. If not you may go through with exon sequencing -for point mutation- or MLPA (or others)- for deletion/duplicaton.
Cheers
Its a large gene, with 2 hotspots but the kind of mutation can vary widely, to my ends it is not important to know the details of the mutations, only that there is an anomaly in the sequence and it must be a technique that allows to maintain the tissue inside the patient
Hi Hector, you could do High resolution melting assay (Roche) of the two hot spots - if there is a mutation you can see differences in the melting curves without any details about the position or the kind of the mutation - but of course you would need DNA of the tissue of the patients
Thanks, that would work, sadly, it still requires taking tissue from the patient, thing is that this mutation could probably be found in a few cells that could be scattered along the organ, so ideally i would need to mark those cells without touching them.
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