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Cystic fibrosis gene mutations

  • US 8,076,078 B2
  • Filed: 07/28/2010
  • Issued: 12/13/2011
  • Est. Priority Date: 03/05/2004
  • Status: Active Grant
First Claim
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1. 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.

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