Guest guest Posted December 1, 2003 Report Share Posted December 1, 2003 Surprise, one can have three mutations, not at the same location, though the first two appear to be on the same location. CF--no doubt! Love, n Rojas mutations > hi > I finally got w/ our clinic Torin's mutations types....and i can't > understand the paper thay gave me...I will copy some parts here...if > anyone has any clue about it. well, my doubt is that he has 3 > mutations...I would like to know what it means... > " ...presence of a known deleterious mutation, delta F508 on exon 10 > of the CFTR gene....presence of a known deleterious mutation, I1027T > on the 17a of the CFTR gene. The deltaF508 and the I1027T have been > known to occur on the same chromosome in many families....presence > of potentially deleterious novel variation, Y913X on exon 15 of the > CFTR gene. Stop condons are typically deleterious in nature. > The result of this test indicate the heterozygous of the previouly > described polymorphism, M470V on the exon 10 of the CFTR gene. this > polymorphism is not currently believed to be disease causing as > reported in the CF mutations data base compiled by CF genetic > analysis consortium but may comtribute in unknown ways to ultimate > phenotype. > ...parents studies would be necessary to determine which mutation > are on different chromossome.... " > > the doctor always want to test my husband and me...but coz of the $$ > we can't do it at the moment. I don't know if I understood > well...but there is a possibility that one of us don't be a carrier > and the mutation y913x happened for the first time on torin...i > don't know...it was really weird how the doc explained it to > us...but I believe it is possible...the mutation come from a normal > chomosome for the first time...if this novel variation showed up for > the first time on my son... > ok > it is a crazy talk.....if anyone has any idea what it is.... > I guess marion has some like that too.... > > love > val > > > > ------------------------------------------- > The opinions and information exchanged on this list should IN NO WAY > be construed as medical advice. > > PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. > > ------------------------------------ > > > Quote Link to comment Share on other sites More sharing options...
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