Join Our Community!
Share
Avatar
Q: CF gene mutations ?
asked by: KeW23 on May 31st, 2009
New User
Why is Cystic Fibrosis more common in Europeans than any other ethnicity? Also what is the chance of a native american, person from India, a hispanic or a middle eastern person getting CF?
How is it possible to get the A455E gene mutation to get CF instead of getting the F508 gene mutation of CF when both causes CF? If parents are carriers of CF could they have a child have with either the A455E gene mutation or F508 gene mutation? What are the symptoms of CF caused by the A455E gene mutation? Also I know there's several other mutations that cause CF; why is that? Are they like different forms of CF?
Did you find this post useful?
|
Replies(1)
User Profile
Dr. Joel W. Steelman , MD
replied on October 11th, 2009
I don't believe that the specific reason is known in Europeans. The popular theory is that being a carrier of cystic fibrosis gave survival advantage against chlorea.
Carriers of one abnormal cystic fibrosis gene (CFTR) are completely healthy. It requires two abnormal copies of the CFTR gene to have cystic fibrosis.

Incidence of CF in white Europeans is about 1 per 4000. The incidence drops off in non-Europeans fairly dramatically, and it's about 1 per 40,000 in asians (includes middle east and india).

The specific genes that lead to cystic fibrosis are inherited from parents - you get one gene from our mother and one gene from your father. The most common abnormal gene mutation in white Europeans in delta F508.

The CFTR gene determines the function of a chloride channel protein. The actual mutation determines just how damaged the function of that protein will be. A mutation such as F508 leads to severe loss of function. Other mutations lead to less severe damage.




DISCLAIMER: "Ask a Doctor" questions are answered by certified physicians and other medical professionals who volunteer their time on eHealth Forum. For more information about experts participating in the "Ask a Doctor" Network, please visit our medical experts page. You may also visit our Cystic Fibrosis , for moderated patient to patient support and information.

The information provided on eHealth Forum is designed to improve, not replace, the relationship between a patient and his/her own physician. Personal consultation(s) with a qualified medical professional is the proper means for diagnosing any medical condition.
Did you find this post useful?
|
Quick Reply
Search