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AssigneeUniversity of Pretoria
InventorsRobin John GREEN, Refiloe MASEKELA, Cheryl STEWART, Michael Sean PEPPER
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This invention relates to a method of identifying mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a kit for performing the method, and furthermore to isolated nucleotide sequences being complementary to one or more mutations of the CFTR gene. According to a first aspect of the invention there is provided a method of identifying mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, including the steps of providing one or more nucleic acid sequences, fully complementary to one or more segments of the CFTR gene, wherein the one or more nucleic acid sequences correspond to the mutation to be identified; providing a biological sample of an individual to be tested for CF; isolating nucleic acids from the biological sample; and testing the biological sample for the presence of one or more of the nucleic acid sequences using a suitable detection method.
A method of identifying mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene of an individual, including the steps of:
A method for diagnosing cystic fibrosis (CF) in an individual comprising the steps of:
A method for determining if an individual or the individual's offspring will have a predisposition to CF, the method comprising the steps of:
One or more nucleic acid sequences fully complementary to one or more segments of the CFTR gene, wherein said one or more nucleic acid sequences correspond to one or more mutations in the CFTR gene selected from the group consisting of SEQ ID NOs:
A kit for identifying mutations in the CFTR gene of an individual, wherein the kit is provided with primers and probes required to detect the presence of one or more nucleic acids fully complementary to one or more segments of the CFTR gene, with the said one or more nucleic acid sequences corresponding to one or more mutations in the CFTR gene selected from the group consisting of SEQ ID NOs:
Dependencies are inferred from the claim text.