Replies to post #82764 on Biotech Values

[iwfal]

Almost all patients with CF are either homozygous for F508del or compound heterozygous for two different CFTR mutations.

Given that f508del is far and away the most common CFTR mutation I agree completely this is true. My point was that even if it is the most common allele by far (and there is no disputing this) patients homozygous for f508del still account for less than 50% of patients. In some locales (like southern Europe or South America), probably close to only 10%.


BTW - A pain in the arse to track down all the stats on allele frequency - in large part because the geographic variation is enormous. The most frequently cited stat (63% of CF patients carry at least one copy of f508del) appears to come from http://www3.interscience.wiley.com/journal/5001118/abstract but other sources generally seem to show lower frequencies for f508del.