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Re: mutations/VAL

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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.

>

> ------------------------------------

>

>

>

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