Re: Re: geneticsresponse/reply

[Guest guest]

Hi Kathy!

It is interesting you mention this situation about someone

carrying 2 CF genes in one (half) gene. As a matter of fact,

as was diagnosed with his sweat test they made a

blood test for the genetics. The result of this blood test

proved it was CF. But the genetic specialists required a

blood test from Axel and/or me to be on the safe side: They

wanted to check that the defective genes they found " in " him

were NOT both on just one " half " of the gene. As the blood

test of Axel's and my blood showed that it was the case that

both halves were defective (well it surely will have shown

that Axel and I both were carriers) and he had CF I never

thought about this issue again. Maybe someone knows more

about it? (Well, if anyone can understand what I am trying

to say...LOL)

Love to all of you

Caroline (carrier)

Talau (10, no idea)

(5 CF)

jfkdc@... schrieb:

>

> I didn't know it was possible to " Carry " 2 CF genes in the same person. Is

> this what you " re saying here? Does anyone know of this situation? I thought

> CF genes were found on chromosome 7. Does this mean two " bad " genes are on

> the same chromosome? Enlighten me, please.

>

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[Guest guest]

Hi Jen!

Do I understand that both your parents are carriers? So you

and your sister " could " of had the chance to get CF

yourselves?

Love

Caroline

ron88jen@... schrieb:

>

>

>

> << I didn't know it was possible to " Carry " 2 CF genes in the same person.

> Is

> this what you " re saying here? Does anyone know of this situation? I thought

> CF genes were found on chromosome 7. Does this mean two " bad " genes are on

> the same chromosome? Enlighten me, please.

> >>

>

> OK, getting into the conversation rather late......we carry all the genes

> that we carry, so I imagine that it was a matter of mere semantics.......

> if you have two copies of the CF mutations, and hence CF (or congental

> absence of vas deferans....), then you could either say you carry two

> mutations, or you could say you inherited two copies of the mutation.

> Whoever said that if you carry two copies of the gene was probably trying to

> explain that the odds go up for the kids to have CF or to be carriers if the

> parent has more than one copy. In our case, with two carrier parents (mine),

> in other words, then my sisters and I could all be carriers of one mutation

> or another, or could have ended up with two copies. In the case of all of

> our kids on the list, two parents being carriers lead to a 1 in 4 chance of

> inheriting two copies of the CF mutation. If there are folks /parents on the

> list who also have CF,then the odds would be higher than one in four, if they

> happened to marry a carrier. If they married a person with CF, so both

> parents have CF, then obviously all the kiddos would have CF, because there

> would be no " non-defective " copies to inherit.

> Jen

>

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[Guest guest]

Hi !

I have nothing to do with genetics or doctors... But I am a

daughter of two mathematicians. Therefore:

wrote:

>

> So, out of 4 possibilities, 2 result in CF and

> 2 result in carrier status. Looks like 50% to me.

>

YOU ARE RIGHT: That is 50 % ;-))

Caroline

[Guest guest]

Caroline,

Oh good! Because unfortunately, I am positively

fatal at math! LOL You do NOT want me figuring the

bill at the restaurant - and DOUBLE CHECK any change

I return to you!! hehehe

--- talau@... wrote:

> Hi !

> I have nothing to do with genetics or doctors... But

> I am a

> daughter of two mathematicians. Therefore:

>

> wrote:

> >

> > So, out of 4 possibilities, 2 result in CF and

> > 2 result in carrier status. Looks like 50% to me.

> >

> YOU ARE RIGHT: That is 50 % ;-))

>

> Caroline

>

>

>

__________________________________________________

[Guest guest]

no, you only carry 1 gene, when you meet with another carrier and have a

child you both can pass them down to the baby. a carrier is a carrier of 1

gene .

the only way you would carry 2 genes is you must have CF. they have 2 genes

.. 1 from the mother and 1 from the father.

understand ?????

chris

mom of 3

brandon 12 yrs wcf

On Mon, 15 Jan 2001 17:14:02 EST, cfparentsegroups wrote:

> I didn't know it was possible to " Carry " 2 CF genes in the same person.

Is

> this what you " re saying here? Does anyone know of this situation? I

thought

> CF genes were found on chromosome 7. Does this mean two " bad " genes are

on

> the same chromosome? Enlighten me, please.

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[Guest guest]

Not true -- see Torsten and my original posts.

[Guest guest]

I think what everyone is saying is that the one gene can have more than one

defect. Is that right? I know I have read about people that have 3

mutations, but never understood how it worked. Is this right - everyone has

two genes - one on each of their chromosome 7s. Each gene can be either

normal or defective. In rare instances one of the genes could have more than

one defect. Thus the person with CF who inherited that gene and another

defective gene would show three mutations.

Is this right? Somewhere I got confused.

Lori

Re: Re: geneticsresponse/reply

> no, you only carry 1 gene, when you meet with another carrier and have a

> child you both can pass them down to the baby. a carrier is a carrier of

1

> gene .

> the only way you would carry 2 genes is you must have CF. they have 2

genes

> . 1 from the mother and 1 from the father.

> understand ?????

>

> chris

> mom of 3

> brandon 12 yrs wcf

> On Mon, 15 Jan 2001 17:14:02 EST, cfparentsegroups wrote:

>

> > I didn't know it was possible to " Carry " 2 CF genes in the same person.

> Is

> > this what you " re saying here? Does anyone know of this situation? I

> thought

> > CF genes were found on chromosome 7. Does this mean two " bad " genes

are

> on

> > the same chromosome? Enlighten me, please.

>

>

>

>

>

> _______________________________________________________

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[Guest guest]

<< Now the suggestion seems to be that one of 's alleles

is

xxxxxxxDxxxxxxxxxxxxxxxRxxxxxxx.

>>

This was a very good explanation and simple too. So does your dad know if

the last case if possible or is he just not sure?

yvonne price

[Guest guest]

Please, could you include the original mail you're repyling to.. it's

impossible to understand your message alone...

Thanks

-----Message d'origine-----

De : jfkdc@...

Envoyé : jeudi, 18. janvier 2001 09:39

À : cfparentsegroups

Objet : Re: Re: geneticsresponse/reply

Not true -- see Torsten and my original posts.

*

[Guest guest]

The article referenced yesterday by Torsten indicates that this possibility

of alleles is surely possible. But as my sister said in her post, broken is

broken. So one or two mutations on the same gene, who cares -- still CF

carrier.

[Guest guest]

Hi!

I have been following the genetic issue for quit a while -

just as most of us. I do not remember that anything has been

discussed for such a long time on any list? :-)

Well, I sent a query to my father about this

having-two-cf-defectives-on-one-allele-issue and he sent me

an answer which even I understood. Therefore I would like to

share it with you. The original question was that I wanted

to know what the doctors ment when they tested 5

years ago to see if he might have his defective on just one

allele. His reply was:

" At each locus in the genome, i.e. a place where a gene or

part of a gene

(exon) is, you have two alleles, one from each parent. There

is really no

such thing as a gene for this or that; what there is, is a

locus on a

chromosome and at this locus there is an allele. You have

two, often

different alleles, because you have two of each chromosome

(except for

unusual cases when you have only one, or more than two, or a

piece missing

....).

In your case, since you're a R117H carrier, your alleles

look like this:

xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx and

xxxxxxxxxxxxxxxxxxxxxxxxRxxxxxxx

where the x's represent the correct bases and the R

represents the point

where something is wrong. Axel's are

xxxxxxxDxxxxxxxxxxxxxxxxxxxxxxxx

xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

where the D is something else wrong, and has

xxxxxxxDxxxxxxxxxxxxxxxxxxxxxxxx

xxxxxxxxxxxxxxxxxxxxxxxxRxxxxxxx

two different defective alleles.

Now the suggestion seems to be that one of 's alleles

is

xxxxxxxDxxxxxxxxxxxxxxxRxxxxxxx.

The other one must be defective too, or he wouldn't have

symptoms.

You have been tested and found to have an allele with R117H,

Axel has been

tested and found to have DeltaF508, right? So the suggestion

must be that

your test missed the fact that your allele has DeltaF508 as

well as R117H ,

or that Axel's test missed the R117H. I don't know enough

about the testing

to guess how likely that is. "

It's nearly bedtime for my " babies " . I wish you a nice day

Caroline

with 5 cf

and Talau 10 nocf

Lori Devoti schrieb:

>

> I think what everyone is saying is that the one gene can have more than one

> defect. Is that right? I know I have read about people that have 3

> mutations, but never understood how it worked. Is this right - everyone has

> two genes - one on each of their chromosome 7s. Each gene can be either

> normal or defective. In rare instances one of the genes could have more than

> one defect. Thus the person with CF who inherited that gene and another

> defective gene would show three mutations.

>

> Is this right? Somewhere I got confused.

>

> Lori

>

> Re: Re: geneticsresponse/reply

>

> > no, you only carry 1 gene, when you meet with another carrier and have a

> > child you both can pass them down to the baby. a carrier is a carrier of

> 1

> > gene .

> > the only way you would carry 2 genes is you must have CF. they have 2

> genes

> > . 1 from the mother and 1 from the father.

> > understand ?????

> >

> > chris

> > mom of 3

> > brandon 12 yrs wcf

> > On Mon, 15 Jan 2001 17:14:02 EST, cfparentsegroups wrote:

> >

> > > I didn't know it was possible to " Carry " 2 CF genes in the same person.

> > Is

> > > this what you " re saying here? Does anyone know of this situation? I

> > thought

> > > CF genes were found on chromosome 7. Does this mean two " bad " genes

> are

> > on

> > > the same chromosome? Enlighten me, please.

> >

> >

> >

> >

> >

> > _______________________________________________________

> > Send a cool gift with your E-Card

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> >

> >

> >

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> > be construed as medical advice.

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> TREATMENTS.

> >

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> >

> >

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> >

> >

> >

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[Guest guest]

Hi Kathleen,

if you referred to Lori's post, why wasn't she not right? I couldn't find

any mistake. And please, add that part of a mail, which you are reffering

too.

Torsten Krafft

dad of Fiona almost 4wcf

e-mail: torstenkrafft@...

Re: Re: geneticsresponse/reply

> Not true -- see Torsten and my original posts.

[Guest guest]

in response to the original question -- can a carrier carry more than 1 cf

gene?

NO, IF YOU CARRY MORE THAN 1 GENE, THEN YOU HAVE CF.

DO YOU HAVE CF OR ARE YOU JUST A CARRIER?

I AM JUST A CARRIER SO THERE FOR I HAVE 1 CF GENE.

CHRIS

MOM OF 3

BRANDON 12 YRS WCF

On Tue, 16 Jan 2001 13:03:37 -0600, cfparentsegroups wrote:

> I've never studied that, but it would seem logical to me that a carrier

can

> carry only one mutation, even in the same chromosome.

> n.. the genetic wiz.... what do you think of it ? ;-)

>

>

>

>

> -----Message d'origine-----

> De : jfkdc@...

> Envoyé : mardi, 16. janvier 2001 12:18

> À : cfparentsegroups

> Objet : Re: Re: geneticsresponse/reply

>

>

> Once again, my question (and it appears that I'm not being clear) is:

Can a

> CARRIER (like me) " carry " two CF genes -- like Delta F508 + another -- on

> the

> same chromosome, with the other chromosome totally normal, and thus just

be

> a

> carrier? I KNOW that CF patients " carry " 2 CF genes, but ONE is on

> Chromosome 7 from Mom and one is on Chromosome 7 from Dad. Is it

possible

> that someone has 2 different genes on the same Chromosome?

>

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[Guest guest]

Hi

again, you have to distinguish between a gene and a mutation. A carrier can

have two or more mutations in one gene and is still a carrier as long as the

other gene is alright. I think that is the answer to 's question.

And the jury is still open on whether everybody with two broken genes

automatically has CF or not. This is a question of definition. Does CF mean,

that you have two defective CFTR-genes? Then everyone with with two

defective genes has CF.

Or does CF mean, that you have two defective genes AND you have symptoms of

CF? Then those people, who have two defective genes but are symptomless or

are mono-symptomatic with CBAVD don't have CF.

Torsten Krafft

dad of Fiona almost 4wcf

e-mail: torstenkrafft@...

RE: Re: geneticsresponse/reply

in response to the original question -- can a carrier carry more than 1 cf

gene?

NO, IF YOU CARRY MORE THAN 1 GENE, THEN YOU HAVE CF.

DO YOU HAVE CF OR ARE YOU JUST A CARRIER?

I AM JUST A CARRIER SO THERE FOR I HAVE 1 CF GENE.

CHRIS

MOM OF 3

BRANDON 12 YRS WCF

On Tue, 16 Jan 2001 13:03:37 -0600, cfparentsegroups wrote:

> I've never studied that, but it would seem logical to me that a carrier

can

> carry only one mutation, even in the same chromosome.

> n.. the genetic wiz.... what do you think of it ? ;-)

>

>

>

>

> -----Message d'origine-----

> De : jfkdc@...

> Envoyé : mardi, 16. janvier 2001 12:18

> À : cfparentsegroups

> Objet : Re: Re: geneticsresponse/reply

>

>

> Once again, my question (and it appears that I'm not being clear) is:

Can a

> CARRIER (like me) " carry " two CF genes -- like Delta F508 + another -- on

> the

> same chromosome, with the other chromosome totally normal, and thus just

be

> a

> carrier? I KNOW that CF patients " carry " 2 CF genes, but ONE is on

> Chromosome 7 from Mom and one is on Chromosome 7 from Dad. Is it

possible

> that someone has 2 different genes on the same Chromosome?

>

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[Guest guest]

Caroline,

All this gene stuff is Sooo confusing, but to add to it further. When we

went through IVF over the past two years, the alleles came up. Because

and I carry 2 different cf genes but they were at opposite ends of the

gene sequences, they couldnt guarantee that even with prenatal diagnosis

that a cf child could be 100%. The scientist mentioned that sometimes what

looks to be normal could infact be cf as the alleles sometimes 'dropout'

which to the eye looks normal but infact it still there. Most of this went

over our head. But they did (for anothe $1000.00) design a back-up test for

us to double check with other markers, and then they can also use it for

others in the same boat.

Thats about all I know about alleles, and it probably only stuck in my mind

because it cost more !

Re: Re: geneticsresponse/reply

> >

> > > no, you only carry 1 gene, when you meet with another carrier and have

a

> > > child you both can pass them down to the baby. a carrier is a carrier

of

> > 1

> > > gene .

> > > the only way you would carry 2 genes is you must have CF. they have 2

> > genes

> > > . 1 from the mother and 1 from the father.

> > > understand ?????

> > >

> > > chris

> > > mom of 3

> > > brandon 12 yrs wcf

> > > On Mon, 15 Jan 2001 17:14:02 EST, cfparentsegroups wrote:

> > >

> > > > I didn't know it was possible to " Carry " 2 CF genes in the same

person.

> > > Is

> > > > this what you " re saying here? Does anyone know of this situation?

I

> > > thought

> > > > CF genes were found on chromosome 7. Does this mean two " bad "

genes

> > are

> > > on

> > > > the same chromosome? Enlighten me, please.

> > >

> > >

> > >

> > >

> > >

> > > _______________________________________________________

> > > Send a cool gift with your E-Card

> > > http://www.bluemountain.com/giftcenter/

> > >

> > >

> > >

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> > > This is a secular list.

> > > ***********************

> > >

> > >

> > > PLEASE do not post religious emails to the list.

> > >

> > >

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> > > be construed as medical advice.

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> > TREATMENTS.

> > >

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

> > >

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