Ashkenazi Jewish descent

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blindhearted

New member
I also have G542X (as well as Delta F508) and have read that it is common in ashkenazi jewish. however, I have no clue about my family history. So I have no idea if I have an ashkenazi jewish or any jewish background based on this mutation. So I am also interested in any information you have about this, Allie. Thanks <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

Allie

New member
G542x is a class one mutation, like w1282x. It's actually more common in Jews than the average population (13%, we seem to be weighted to nonsense mutations) but is nowhere near as common as W1282x in Jewish patients( 60% of Ashkenazi Jews). 70% of the G542x come from the south of Europe, leading me to believe it's actually a Sephardi strain (Spain, Greece, etc)

anything I missed?
 
A

Allie

New member
G542x is a class one mutation, like w1282x. It's actually more common in Jews than the average population (13%, we seem to be weighted to nonsense mutations) but is nowhere near as common as W1282x in Jewish patients( 60% of Ashkenazi Jews). 70% of the G542x come from the south of Europe, leading me to believe it's actually a Sephardi strain (Spain, Greece, etc)

anything I missed?
 
A

Allie

New member
G542x is a class one mutation, like w1282x. It's actually more common in Jews than the average population (13%, we seem to be weighted to nonsense mutations) but is nowhere near as common as W1282x in Jewish patients( 60% of Ashkenazi Jews). 70% of the G542x come from the south of Europe, leading me to believe it's actually a Sephardi strain (Spain, Greece, etc)

anything I missed?
 
H

hopefullmom

New member
This is my first time to post but mom little girl has Df508 and W1282X, but on the positive side of things they are doing alot of research on the X mutation right now. I feel real confident that things are going in the right direction with this new drug ptc124. It is in stage 2b trial and they have got it to read through the x mutations so that would be great for all of us and everyone else that they might find ways to maintain the lungs while they are searching for a cure. My little girl is 4!!!!
 
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hopefullmom

New member
This is my first time to post but mom little girl has Df508 and W1282X, but on the positive side of things they are doing alot of research on the X mutation right now. I feel real confident that things are going in the right direction with this new drug ptc124. It is in stage 2b trial and they have got it to read through the x mutations so that would be great for all of us and everyone else that they might find ways to maintain the lungs while they are searching for a cure. My little girl is 4!!!!
 
H

hopefullmom

New member
This is my first time to post but mom little girl has Df508 and W1282X, but on the positive side of things they are doing alot of research on the X mutation right now. I feel real confident that things are going in the right direction with this new drug ptc124. It is in stage 2b trial and they have got it to read through the x mutations so that would be great for all of us and everyone else that they might find ways to maintain the lungs while they are searching for a cure. My little girl is 4!!!!
 
R

Rebjane

Super Moderator
Hopeful,

My daughter is also 4 with the same mutations as your daughter. She gets the W1282X from me. How is your daughter doing healthwise, if you don't mind me asking.
 
R

Rebjane

Super Moderator
Hopeful,

My daughter is also 4 with the same mutations as your daughter. She gets the W1282X from me. How is your daughter doing healthwise, if you don't mind me asking.
 
R

Rebjane

Super Moderator
Hopeful,

My daughter is also 4 with the same mutations as your daughter. She gets the W1282X from me. How is your daughter doing healthwise, if you don't mind me asking.
 
H

hopefullmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Rebjane</b></i>

Hopeful,

My daughter is also 4 with the same mutations as your daughter. She gets the W1282X from me. How is your daughter doing healthwise, if you don't mind me asking.</end quote></div>

My daughter has been doing pretty good, but she was just cultured with pseadomonus and I was devastated. She did not get diagnosed until she was almost 3, it is a long story. Is your daughter doing ok? I am suppose to take her to Minneapolis next month, we currently go to the Dallas clinic. Where do you guys go to clinic. What does your daughter weigh, if you don't mind me asking? My little girl is really small. It is good to talk to someone about it. Maci 4 wcf, Blake 9wocf, Whitney 16wocf
 
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hopefullmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Rebjane</b></i>

Hopeful,

My daughter is also 4 with the same mutations as your daughter. She gets the W1282X from me. How is your daughter doing healthwise, if you don't mind me asking.</end quote></div>

My daughter has been doing pretty good, but she was just cultured with pseadomonus and I was devastated. She did not get diagnosed until she was almost 3, it is a long story. Is your daughter doing ok? I am suppose to take her to Minneapolis next month, we currently go to the Dallas clinic. Where do you guys go to clinic. What does your daughter weigh, if you don't mind me asking? My little girl is really small. It is good to talk to someone about it. Maci 4 wcf, Blake 9wocf, Whitney 16wocf
 
H

hopefullmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Rebjane</b></i>

Hopeful,

My daughter is also 4 with the same mutations as your daughter. She gets the W1282X from me. How is your daughter doing healthwise, if you don't mind me asking.</end quote></div>

My daughter has been doing pretty good, but she was just cultured with pseadomonus and I was devastated. She did not get diagnosed until she was almost 3, it is a long story. Is your daughter doing ok? I am suppose to take her to Minneapolis next month, we currently go to the Dallas clinic. Where do you guys go to clinic. What does your daughter weigh, if you don't mind me asking? My little girl is really small. It is good to talk to someone about it. Maci 4 wcf, Blake 9wocf, Whitney 16wocf
 
H

hopefullmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Risa</b></i>

I am Jewish and have delta F508 and G542X</end quote></div>

Hello - Have you had a transplant, and what do you recommend we do to try and keep our children healthy? My husband has the gene W1282X, but we are not sure of his background. Do you know much about the investigational drug they are trying in Israel, PTC124. Hopefullmom of four year old daughter
 
H

hopefullmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Risa</b></i>

I am Jewish and have delta F508 and G542X</end quote></div>

Hello - Have you had a transplant, and what do you recommend we do to try and keep our children healthy? My husband has the gene W1282X, but we are not sure of his background. Do you know much about the investigational drug they are trying in Israel, PTC124. Hopefullmom of four year old daughter
 
H

hopefullmom

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Risa</b></i>

I am Jewish and have delta F508 and G542X</end quote></div>

Hello - Have you had a transplant, and what do you recommend we do to try and keep our children healthy? My husband has the gene W1282X, but we are not sure of his background. Do you know much about the investigational drug they are trying in Israel, PTC124. Hopefullmom of four year old daughter
 
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Liza

New member
Allie, your knowledge is wonderful. Neither of our families had a history of CF as far as we knew before our girls. My husbands family had done some searching for a niece that was born with a skin condition (she wasn't supposed to live to age 5, she is now in her 30's & married) that they (physicians) decided was genetic. We know that his father's side is French, his mother was English from Liverpool. When you mentioned your thoughts that G542X was from southern Europe I immediately thought of my family. I am Mexican, with my paternal great-grandmother being full Spanish but we don't know where from and my fathers side of the family being traced to the Basque region of Spain. To a village on the edge of the Pyrennes near Pamplona. I have often wondered where the gene could have come from. In the beginning when Anna was diagnosed (at age 3) we were told it was a predominantly caucasion disease. No one else from my family has ever been tested to see if they are carriers, so we don't know which side it's on.

Thanks for your info.
 
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