PKD mutations and evaluation of same
AssigneesAthena Diagnostics, Inc., The Johns Hopkins University
InventorsTerry J. Watnick, Miguel Garcia-Gonzales, Gregory G. Germino, Jeffrey G. Jones
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Abstract
The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.
Claims5
A method of diagnosing or predicting the occurrence of autosomal dominant polycystic kidney disease (ADPKD) in a human, comprising:
- a) assaying a sample comprising a nucleic acid encoding a PKD1 gene obtained from a human;
- b) detecting a mutation in the PKD1 gene, wherein the mutation is a deletion of TTTAA at nucleotide positions 559 to 563 of SEQ ID NO:
- 1;
- and
- c) diagnosing or predicting the occurrence of ADPKD in the human when the mutation in the PKD1 gene is detected.
A method for detecting a mutant PKD1 gene in a human, comprising:
- a) assaying a nucleic acid sample comprising a PKD1 gene obtained from a human;
- and
- b) detecting a mutation in the PKD1 gene, wherein the mutation is a deletion of TTTAA at nucleotide positions 559 to 563 of SEQ ID NO:1, and
- wherein the mutation indicates the human has a mutant PKD1 gene.
A method of diagnosing or predicting the occurrence of autosomal dominant polycystic kidney disease (ADPKD) in a human, comprising:
- a) sequencing all or a portion of a PKD1 gene isolated from a nucleic acid sample obtained from a human;
- and
- b) detecting a mutation in the PKD1 gene, wherein the mutation results in a N116fsX polymorphism of SEQ ID NO:3 in the polypeptide sequence encoded by the PKD1 gene;
- c) diagnosing or predicting the occurrence of ADPKD in the human when the polymorphism is detected.
Dependencies are inferred from the claim text.