Compositions and methods for genetic analysis of polycystic kidney disease
AssigneeAthena Diagnostics, Inc.
InventorsJeffrey Jones, Aidan Hennigan, John Curran, Susan Allen, Normand Robichaud, Jing Wang, Kerry Flynn, Jorge Garces, Christopher Palatucci, William Seltzer
Life of this patent
Estimating the term…
Abstract
The subject invention relates to nucleic acid sequences for detection of mutations in a PKD-1 or PKD-2 gene, as well as biomarkers for ADPKD. The invention further relates to methods for diagnosing ADPKD in an individual, and kits for performing the methods of the invention. The invention also provides a method for determining in an individual the presence or absence of a mutant PKD gene.
Claims14
A method of detecting autosomal dominant polycystic kidney disease (ADPKD) in an individual comprising detecting the presence of one or more nucleotide sequence alterations selected from the group consisting of:
- PKD1X6, PKD1X23A, PKD1X23B, PKD1X10, PKD1X15J, PKD1X40, PKD1X31, PKD2X1A, PKD1X19, PKD1X36, PKD2X4, PKD2X1C, PKD1X13, PKD1X1, PKD1X15A, PKD1X15B, PKD2X1B, PKD1X24, PKD1X35, PKD1X42, PKD1X14, PKD1X46B in the nucleotide sequence of a PKD-1 or PKD-2 gene in an individual, wherein the presence of said one or more nucleotide sequence alterations indicates that the individual has ADPKD.
A method for detecting in an individual the presence or absence of a mutant PKD gene comprising:
- (a) obtaining a nucleic acid sample from said individual;
- and
- (b) detecting the presence or absence of one or more mutations in a PKD-1 or PKD-2 gene of said individual, wherein the mutation or deletion is selected from the group consisting of:
- PKD1X6, PKD1X23A, PKD1X23B, PKD1X10, PKD1X15J, PKD1X40, PKD1X31, PKD2X1A, PKD1X19, PKD1X36, PKD2X4, PKD2X1C, PKD1X13, PKD1X1, PKD1X15A, PKD1X15B, PKD2X1B, PKD1X24, PKD1X35, PKD1X42, PKD1X14, PKD1X46B.
A method for detecting the presence or absence of one or more mutations in a nucleic acid encoding a PKD-1 protein, a PKD-2 protein or PKD-1 protein and a PKD-2 protein comprising:
- (a) analyzing a test sample containing a nucleic acid sequence encoding a PKD-1 protein comprising SEQ ID NO. 171 or a PKD-2 protein comprising SEQ ID NO. 172 for one or more mutations or deletions in said nucleic acid sequence selected from the group consisting of:
- PKD1X6, PKD1X23A, PKD1X23B, PKD1X10, PKD1X15J, PKD1X40, PKD1X31, PKD2X1A, PKD1X19, PKD1X36, PKD2X4, PKD2X1C, PKD1X13, PKD1X1, PKD1X15A, PKD1X15B, PKD2X1B, PKD1X24, PKD1X35, PKD1X42, PKD1X14, PKD1X46B;
- and
- (b) comparing the results of the analysis of the test sample with the results of analysis of a control sample,
- wherein the control sample comprises the nucleic acid sequence encoding a PKD-1 protein of SEQ ID NO. 171, a PKD-2 protein of SEQ ID NO. 172 or a PKD-1 protein of SEQ ID NO. 171 and a PKD-2 protein of SEQ ID NO. 172 without a mutation.
Dependencies are inferred from the claim text.