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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

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Unfortunately, if Torin has been diagnosed with cf, both of you

parents, passed a recessive gene on to him. Otherwise, if he only

had one gene then he would be a carrier.

When the lab writes " presence of potentially deleterious novel

variation, Y913X on exon 15 " it means that it is a different

variation from what the lab has to compare against, the type of

mutations that that particular lab is using. It may be the fact that

you are from Brazil that is a variation previously not recorded.

But, with this disease mutations do not just occur.

> 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

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I forgot to write that since Torin has a stop mutation he could

benefit from gentamicin therapy.

> > 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

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I don't believe that this is entirely accurate. Spontanious

mutations do occur in cystic fibrosis, from what I understand, but

it is rare. Others on this list should be able to offer a more

extensive explanation.

~

> mutations that that particular lab is using. It may be the fact

that

> you are from Brazil that is a variation previously not recorded.

> But, with this disease mutations do not just occur.

>

>

>

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Bingo! n with love!

Re: mutations

>

> I forgot to write that since Torin has a stop mutation he could

> benefit from gentamicin therapy.

>

>

>

>

>

>

>

> > > 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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Actually, it is a " stop " enzyme, which is a good type of mutation!

Love,

n

Re: mutations

> Unfortunately, if Torin has been diagnosed with cf, both of you

> parents, passed a recessive gene on to him. Otherwise, if he only

> had one gene then he would be a carrier.

> When the lab writes " presence of potentially deleterious novel

> variation, Y913X on exon 15 " it means that it is a different

> variation from what the lab has to compare against, the type of

> mutations that that particular lab is using. It may be the fact that

> you are from Brazil that is a variation previously not recorded.

> But, with this disease mutations do not just occur.

>

>

>

>

>

>

>

>

>

>

>

>

>

> > 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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Share on other sites

; you post is much appreciated; with so many mutations having been

found at this time, spontaneous, recent, rare or common, the big problem is

to

figure out which other than the first 89 are disease-producing. Besides,

gene

mutation in general occurs at close to 10%, giving us charmers such as Cepa

cia, Mucoid PA, various forms of MRSA, HIV, Hepatitis C, Hanta Virus and

Ebola, to say nothing of poliomyelitis! This is complex almost beyond one's

grasp when one first approaches the subject. One is tempted to thing that

an

" exon " is a brand of gasoline, not a mutation locus! Wild!

Love to all at cfparents,

n Rojas

Re: mutations

> I don't believe that this is entirely accurate. Spontanious

> mutations do occur in cystic fibrosis, from what I understand, but

> it is rare. Others on this list should be able to offer a more

> extensive explanation.

>

> ~

>

>

>

> > mutations that that particular lab is using. It may be the fact

> that

> > you are from Brazil that is a variation previously not recorded.

> > But, with this disease mutations do not just occur.

> >

> >

> >

>

>

>

>

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

> 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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Share on other sites

actually, mutations can occur spontaneously. But it is EXTREMELY rare.

Re: mutations

Unfortunately, if Torin has been diagnosed with cf, both of you

parents, passed a recessive gene on to him. Otherwise, if he only

had one gene then he would be a carrier.

When the lab writes " presence of potentially deleterious novel

variation, Y913X on exon 15 " it means that it is a different

variation from what the lab has to compare against, the type of

mutations that that particular lab is using. It may be the fact that

you are from Brazil that is a variation previously not recorded.

But, with this disease mutations do not just occur.

> 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

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Share on other sites

,

Thank you for the correction, I did not know that spontaneous

mutations do occur in CF. I will read further on this, I did not get

the impression that it was implied on what was written on the post,

though.

Thanks,

>

> > mutations that that particular lab is using. It may be the fact

> that

> > you are from Brazil that is a variation previously not recorded.

> > But, with this disease mutations do not just occur.

> >

> >

> >

Link to comment
Share on other sites

Thanks

> > 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

>

>

>

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