I know my sisters carrier mustation and

princessjdc

New member
Okay remember a while back I posted about my sister thinking that if she had a rare or not a bad mutation then if her baby was to have CF it wouldnt be bad CF?

Okay well my sister got her papers back about her and her husbands mutations and she called and told me that her mutation is G542X which is exactly my mutation too, which I figure since both my mutations are G542X then it would make sense for my sis to have the same one too, so if my brother is a carrier then his would be G542X too! I thought that was cool, I guess I never thought that my sis would have the same mutation as me but seeing my parents both have identical mutations then of course she would have the same one too!

For her husband he has the DeltaF508 mutation which we all know is the most common mutation for those with CF.

Well, my sis really wants another kid, I can tell, and I wouldnt be surprised if she goes ahead with having another kid. I told her she can get a dna test to see whose dna's mutation is the dominate or recessive gene, cause if they knew that then if only one gene is dominent and the other recessive then she wont have any kids with CF at least I think, my husband understands and knows more about the recessive and dominent genes and how they work.

Any who thought Id share that with you guys, I think she understands now that it doesnt matter if you have a good mutation or not CF affects people differently and that it progresses differently too! I think I know what she is talking about now too, I think she was talking about the dominent and recessive genes. Man I hope that last part didnt confuse anyone.
 

princessjdc

New member
Okay remember a while back I posted about my sister thinking that if she had a rare or not a bad mutation then if her baby was to have CF it wouldnt be bad CF?

Okay well my sister got her papers back about her and her husbands mutations and she called and told me that her mutation is G542X which is exactly my mutation too, which I figure since both my mutations are G542X then it would make sense for my sis to have the same one too, so if my brother is a carrier then his would be G542X too! I thought that was cool, I guess I never thought that my sis would have the same mutation as me but seeing my parents both have identical mutations then of course she would have the same one too!

For her husband he has the DeltaF508 mutation which we all know is the most common mutation for those with CF.

Well, my sis really wants another kid, I can tell, and I wouldnt be surprised if she goes ahead with having another kid. I told her she can get a dna test to see whose dna's mutation is the dominate or recessive gene, cause if they knew that then if only one gene is dominent and the other recessive then she wont have any kids with CF at least I think, my husband understands and knows more about the recessive and dominent genes and how they work.

Any who thought Id share that with you guys, I think she understands now that it doesnt matter if you have a good mutation or not CF affects people differently and that it progresses differently too! I think I know what she is talking about now too, I think she was talking about the dominent and recessive genes. Man I hope that last part didnt confuse anyone.
 

princessjdc

New member
Okay remember a while back I posted about my sister thinking that if she had a rare or not a bad mutation then if her baby was to have CF it wouldnt be bad CF?

Okay well my sister got her papers back about her and her husbands mutations and she called and told me that her mutation is G542X which is exactly my mutation too, which I figure since both my mutations are G542X then it would make sense for my sis to have the same one too, so if my brother is a carrier then his would be G542X too! I thought that was cool, I guess I never thought that my sis would have the same mutation as me but seeing my parents both have identical mutations then of course she would have the same one too!

For her husband he has the DeltaF508 mutation which we all know is the most common mutation for those with CF.

Well, my sis really wants another kid, I can tell, and I wouldnt be surprised if she goes ahead with having another kid. I told her she can get a dna test to see whose dna's mutation is the dominate or recessive gene, cause if they knew that then if only one gene is dominent and the other recessive then she wont have any kids with CF at least I think, my husband understands and knows more about the recessive and dominent genes and how they work.

Any who thought Id share that with you guys, I think she understands now that it doesnt matter if you have a good mutation or not CF affects people differently and that it progresses differently too! I think I know what she is talking about now too, I think she was talking about the dominent and recessive genes. Man I hope that last part didnt confuse anyone.
 

LouLou

New member
I believe your DH and sister are incorrect to believe that some cf genes are dominant while some are recessive. All cf genes are recessive. All carriers have a 25% chance of making a cf baby. Maybe what you are thinking of is how cf expresses itself symptomatically more like the gene associated with fewer cf symptoms (higher category). This isn't an exact science though because of modifier genes. You are a perfect example of that...you have two class 1's and still have very high FEV1's. I would guess (without much research on the subject) that your cf outcome is quite unusual for a dualG542X gene.

Some things for you and your sis/BIL to think about are:

1) You have two category 1 mutations. Her baby if (s)he has cf, would have a category I and a category II. See here for more information on the classification <a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm
">http://www.cdc.gov/genomics/gt...CFCliVal_24.htm
</a>

2) Do your sister and you live in the same community? What will your plan for contact with them be if the baby does have cf? What is your sister's plan? Do they jive or could this be a bone of contension? If I were in this situation I would want to work it all out before the bouncing bundle of joy arrives.
 

LouLou

New member
I believe your DH and sister are incorrect to believe that some cf genes are dominant while some are recessive. All cf genes are recessive. All carriers have a 25% chance of making a cf baby. Maybe what you are thinking of is how cf expresses itself symptomatically more like the gene associated with fewer cf symptoms (higher category). This isn't an exact science though because of modifier genes. You are a perfect example of that...you have two class 1's and still have very high FEV1's. I would guess (without much research on the subject) that your cf outcome is quite unusual for a dualG542X gene.

Some things for you and your sis/BIL to think about are:

1) You have two category 1 mutations. Her baby if (s)he has cf, would have a category I and a category II. See here for more information on the classification <a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm
">http://www.cdc.gov/genomics/gt...CFCliVal_24.htm
</a>

2) Do your sister and you live in the same community? What will your plan for contact with them be if the baby does have cf? What is your sister's plan? Do they jive or could this be a bone of contension? If I were in this situation I would want to work it all out before the bouncing bundle of joy arrives.
 

LouLou

New member
I believe your DH and sister are incorrect to believe that some cf genes are dominant while some are recessive. All cf genes are recessive. All carriers have a 25% chance of making a cf baby. Maybe what you are thinking of is how cf expresses itself symptomatically more like the gene associated with fewer cf symptoms (higher category). This isn't an exact science though because of modifier genes. You are a perfect example of that...you have two class 1's and still have very high FEV1's. I would guess (without much research on the subject) that your cf outcome is quite unusual for a dualG542X gene.

Some things for you and your sis/BIL to think about are:

1) You have two category 1 mutations. Her baby if (s)he has cf, would have a category I and a category II. See here for more information on the classification <a target=_blank class=ftalternatingbarlinklarge href="http://www.cdc.gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_24.htm
">http://www.cdc.gov/genomics/gt...CFCliVal_24.htm
</a>

2) Do your sister and you live in the same community? What will your plan for contact with them be if the baby does have cf? What is your sister's plan? Do they jive or could this be a bone of contension? If I were in this situation I would want to work it all out before the bouncing bundle of joy arrives.
 

princessjdc

New member
I didnt know that all CF genes was recessive if thats the case she doesnt need a dna test. I figured that some was dominent too.

If my sis was to have a kid with CF then I woul just wear a mask around the baby at all times we live about 5-10 miles away from each other and I see my sis on Sundays so I would be around the kid quite a bit. I wouldnt play with the kid very much either. If my sis does decide to take another chance then I hope she gets lucky again and the kid not have CF.

Thanks for the link.
 

princessjdc

New member
I didnt know that all CF genes was recessive if thats the case she doesnt need a dna test. I figured that some was dominent too.

If my sis was to have a kid with CF then I woul just wear a mask around the baby at all times we live about 5-10 miles away from each other and I see my sis on Sundays so I would be around the kid quite a bit. I wouldnt play with the kid very much either. If my sis does decide to take another chance then I hope she gets lucky again and the kid not have CF.

Thanks for the link.
 

princessjdc

New member
I didnt know that all CF genes was recessive if thats the case she doesnt need a dna test. I figured that some was dominent too.

If my sis was to have a kid with CF then I woul just wear a mask around the baby at all times we live about 5-10 miles away from each other and I see my sis on Sundays so I would be around the kid quite a bit. I wouldnt play with the kid very much either. If my sis does decide to take another chance then I hope she gets lucky again and the kid not have CF.

Thanks for the link.
 
M

Mommafirst

Guest
Hi Jennifer,

I hope you don't mind my butting in here to say that I think it would be very important that your sister and her husband meet with a genetic counselor before trying for another baby. Since they are both carriers they have a one in four chance of having a CF baby. But those stats are from large populations. There are parents on this site with more than one CF child, so they proved the statistics wrong. I have three kids, just one with CF. But I can think of several parents on this site who only have 2 kids and both have CF.

Good luck
 
M

Mommafirst

Guest
Hi Jennifer,

I hope you don't mind my butting in here to say that I think it would be very important that your sister and her husband meet with a genetic counselor before trying for another baby. Since they are both carriers they have a one in four chance of having a CF baby. But those stats are from large populations. There are parents on this site with more than one CF child, so they proved the statistics wrong. I have three kids, just one with CF. But I can think of several parents on this site who only have 2 kids and both have CF.

Good luck
 
M

Mommafirst

Guest
Hi Jennifer,

I hope you don't mind my butting in here to say that I think it would be very important that your sister and her husband meet with a genetic counselor before trying for another baby. Since they are both carriers they have a one in four chance of having a CF baby. But those stats are from large populations. There are parents on this site with more than one CF child, so they proved the statistics wrong. I have three kids, just one with CF. But I can think of several parents on this site who only have 2 kids and both have CF.

Good luck
 
I

IG

Guest
Hate to be nit-picky but it's not 'one in four children'

It's a 1/4th of a chance for each child. 1/2 chance that the kid will not have cf but will have the gene. 1/4 chance that the child will not have CF or carry the gene.

It's the same genetic probabilities for each child.

*edit*
Sorry I read that wrong, you said 'one in four chance' but maybe I'm still reading that wrong because it sounds to me that you mean one in four children. If you don't guess I'm just reading that weird.
 
I

IG

Guest
Hate to be nit-picky but it's not 'one in four children'

It's a 1/4th of a chance for each child. 1/2 chance that the kid will not have cf but will have the gene. 1/4 chance that the child will not have CF or carry the gene.

It's the same genetic probabilities for each child.

*edit*
Sorry I read that wrong, you said 'one in four chance' but maybe I'm still reading that wrong because it sounds to me that you mean one in four children. If you don't guess I'm just reading that weird.
 
I

IG

Guest
Hate to be nit-picky but it's not 'one in four children'

It's a 1/4th of a chance for each child. 1/2 chance that the kid will not have cf but will have the gene. 1/4 chance that the child will not have CF or carry the gene.

It's the same genetic probabilities for each child.

*edit*
Sorry I read that wrong, you said 'one in four chance' but maybe I'm still reading that wrong because it sounds to me that you mean one in four children. If you don't guess I'm just reading that weird.
 

JazzysMom

New member
Maybe it would be easier to say that with each PREGNANCY there is a 25% chance of the baby having CF, 50% chance of the baby being a carrier and 25% of neither.
 

JazzysMom

New member
Maybe it would be easier to say that with each PREGNANCY there is a 25% chance of the baby having CF, 50% chance of the baby being a carrier and 25% of neither.
 

JazzysMom

New member
Maybe it would be easier to say that with each PREGNANCY there is a 25% chance of the baby having CF, 50% chance of the baby being a carrier and 25% of neither.
 
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