Cystic Fibrosis

From SNPedia

The wikipedia article on cystic fibrosis is a good resource to learn about the disease. Cystic fibrosis transmembrane conductance regulator (CFTR) is a gene which influences the condition.

The following omim article compiles the latest medical research.

• i3000001, also known as DeltaF508, is the cause of about 70% of cystic fibrosis cases. Until recently SNPedia reported that this SNP was also known as rs332; however, there is some uncertainty about whether this is the same variation.

The remaining 30% of cases are due to a wide variety of mutations in the same gene, including the following:

• i4000292, also known as DeltaI507
• i4000294, also known as G85E (risk allele A)
• i4000295, also known as R117H (risk allele A)
• rs35516286, also known as I148T (risk allele C)
• i4000296, also known as R334W (risk allele T)
• i4000297, also known as R347P/H (risk alleles C or A)
• i4000291, also known as A455E (risk allele A)
• i4000299, also known as V520F (risk allele T)
• i4000300, also known as G542X (risk allele T)
• i4000301, also known as S549N (risk allele A)
• i4000302, also known as S549R (risk allele T)
• i4000305, also known as G551D (risk allele A)
• i4000306, also known as R553X (risk allele T)
• i4000307, also known as R560T (risk allele C)
• i4000308, also known as R1162X (risk allele T)
• i4000309, also known as W1282X (risk allele A)
• i4000311, also known as N1303K (risk allele G)
• i4000313, also known as 394delTT
• i4000314, also known as 621+1G>T (risk allele T)
• i4000315, also known as 711+1G>T (risk allele T)
• i4000316, also known as 1078delT
• i4000317, also known as 1717-1G>A (risk allele A)
• i4000318, also known as 1898+1G>A (risk allele A)
• i4000319, also known as 2184delA
• i4000320, also known as 2789+5G>A (risk allele A)
• i4000321, also known as 3120+1G>A (risk allele A)
• i4000322, also known as 3659delC
• i4000323, also known as 3876delA
• i4000324, also known as 3905insT
• i4000325, also known as 3849+10kbC>T (risk allele T)

[1] a small percentage of CF sufferers with a rare genetic stop mutation (Y122X) responded positively to Gentamicin treatment.

[2] Study reveals how cells destroy faulty proteins in cystic fibrosis.

With CF the body will make or absorb too much oxalate. Here is a Yahoo! group of people who are interested in trying low oxalate diets.

Yahoo CF directory

CF Parents

Ambry Genetics offers genetic testing for cystic fibrosis. You can see some of the Ambry related discussion in the cysticfibrosis.com forums.

[3] HIV can be used to correct faulty cystic fibrosis gene in mice.