Day 159 (7q31.2-7q31.33): CFTR ΔF508, the cause of cystic fibrosis

cf-channelhttp://learn.genetics.utah.edu/content/disorders/singlegene/cf/images/cf-channel.jpg

Day 159 has 30 protein-coding genes (browser view) including CFTR (cystic fibrosis transmembrane conductance regulator.)

Like Day 64: (3p22.1-3p21.2): CCR5 Δ32, an HIV resistance mutation,  the ΔF508 cystic fibrosis mutation in CFTR is at surprisingly high frequency (1 in 30 Europeans), which has led to speculation that it has been a target of recent evolution – it may provide protection against cholera in people with one copy, despite causing cystic fibrosis when inheriting two copies.

Click here to see all 8386630 letters of Day 159 with the CFTR ΔF508 mutation flashing.

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