Patent ID: 8076078

Claim:
A method of determining the cystic fibrosis status of a human comprising: (a) determining the presence or absence of the c.3297C>A mutation, which results in F1099L/p.Phe1099Leu, in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene in a nucleic acid sample obtained from the human, and (b) identifying the human (i) as having cystic fibrosis or being predisposed to cystic fibrosis when the human is homozygous for the c.3297C>A mutation in the CFTR gene, or (ii) as being a cystic fibrosis carrier when the human is heterozygous for the c.3297C>A mutation in the CFTR gene, or (iii) as having no predisposition or carrier status caused by the c.1352G>T mutation when the c.3297C>A mutation is absent from both alleles of the CFTR gene.