Method for diagnosing renal diseases or predispositions

Abstract

The invention provides a method of diagnosing a disease or a predisposition to contract a disease by assaying for mutations of uromodulin (UMOD) within a test subject or patient. The presence of a mutation in the UMOD supports a diagnosis of a disease or a predisposition to contract a disease within the patient.

1 .- 20 . (canceled) 
     
     
         21 . An oligonucleotide comprising a fragment of a uromodulin (UMOD) gene or the complement thereof, wherein the UMOD gene comprises a imitation selected from the group consisting of:
 (i) G>A at nucleotide position 1880 of the UMOD coding sequence;   (ii) a deletion of the nucleotides at positions 1966 to 1992 of the UMOD coding sequence;   (iii) T>C at nucleotide position 2086 of the UMOD coding sequence;   (iv) G>A at nucleotide position 2105 of the UMOD coding sequence; and   (v) G>T at nucleotide position 1744 of the UMOD coding sequence;   wherein the oligonucleotide is detectably labeled.   
     
     
         22 . The oligonucleotide of  claim 21 , wherein the oligonucleotide specifically binds to the UMOD gene comprising a mutation under high stringency conditions. 
     
     
         23 . The oligonucleotide of  claim 21 , wherein the oligonucleotide does not specifically bind to the wild type UMOD coding sequence under high stringency conditions. 
     
     
         24 . The oligonucleotide of  claim 21 , wherein the UMOD gene comprises a deletion of the nucleotides at positions 1966 to 1992 of the UMOD coding sequence. 
     
     
         25 . The oligonucleotide of  claim 21 , wherein the UMOD gene comprises a G>A mutation at position 1880 of the UMOD coding sequence. 
     
     
         26 . The oligonucleotide of  claim 21 , wherein the UMOD gene comprises a T>C at nucleotide position 2086 of the UMOD coding sequence. 
     
     
         27 . The oligonucleotide of  claim 21 , wherein the UMOD gene comprises G>A at nucleotide position 2105 of the UMOD coding sequence. 
     
     
         28 . The oligonucleotide of  claim 21 , wherein the UMOD gene comprises G>T at nucleotide position 1744 of the UMOD coding sequence. 
     
     
         29 . A method of detecting a mutation in a UMOD gene, the method comprising:
 (a) contacting a UMOD nucleic acid obtained from a human test subject with an oligonucleotide selected from:
 (i) an oligonucleotide comprising a fragment of a UMOD nucleic acid sequence that specifically binds to a UMOD gene having a mutation selected from the group consisting of: 
 (1) T>C at nucleotide position 2086 of the UMOD coding sequence; 
 (2) G>A at nucleotide position 2105 of the UMOD coding sequence; and 
 (3) G>T at nucleotide position 1744 of the UMOD coding sequence; 
 (ii) an oligonucleotide that is the complement of the oligonucleotide of (i); 
   (b) detecting hybridization of the oligonucleotide with the UMOD nucleic acid, wherein hybridization is indicative of the presence of a mutation in the UMOD gene.   
     
     
         30 . The method of  claim 29 , wherein the UMOD nucleic acid is genomic DNA. 
     
     
         31 . The method of  claim 29 , wherein the UMOD nucleic acid is RNA. 
     
     
         32 . The method of  claim 29 , wherein the method further comprises generating a synthetic copy of the DNA or RNA of the test subject. 
     
     
         33 . The method of  claim 29 , wherein the oligonucleotide is detectably labeled.