US2002142311A1PendingUtilityA1

Genetic modification in the gene for human G protein beta3 subunit for the diagnosis of diseases

Priority: May 14, 1996Filed: Apr 16, 2001Published: Oct 3, 2002
Est. expiryMay 14, 2016(expired)· nominal 20-yr term from priority
C12Q 2600/156C12Q 1/6883C12Q 1/68
46
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Claims

Abstract

The present invention relates to the use of a mutation in the gene for human G-protein β3 sub-unit for diagnosing illnesses.

Claims

exact text as granted — not AI-modified
We claim:  
     
         1 . The use of a genetic modification in the gene for human G protein β3 subunit for the diagnosis of diseases.  
     
     
         2 . The use of a genetic modification in the gene for human G protein β3 subunit for establishing the risk of developing a disorder associated with G protein dysregulation.  
     
     
         3 . The use as claimed in  claim 2 , wherein the genetic modification is in the codon for amino acid 275 in SEQ ID NO:1.  
     
     
         4 . The use as claimed in  claim 3 , wherein there is substitution of cytosine by thymine in position 825 in SEQ ID NO:1.  
     
     
         5 . The use as claimed in  claim 2 , wherein the disorder is a cardiovascular disease, a metabolic disturbance or an immunological disease.  
     
     
         6 . The use as claimed in  claim 2 , wherein the disorder is hypertension.  
     
     
         7 . A method for establishing a relative risk of developing disorders associated with G protein dysregulation for a subject, which comprises comparing the gene sequence for human C protein β3 subunit of the subject with the gene sequence SEQ ID NO:1, and, in the event that a thymine (T) is present at position 825, assigning the subject an increased risk of disease.  
     
     
         8 . A method as claimed in  claim 7 , wherein the comparison of genes is carried out by sequencing.  
     
     
         9 . A method as claimed in  claim 8 , wherein a gene section which includes position 825 is amplified before the sequencing.  
     
     
         10 . A method as claimed in  claim 7 , wherein the comparison of genes is carried out by hybridization.  
     
     
         11 . A method as claimed in  claim 7 , wherein the comparison of genes is tarried out by cleavage using restriction enzymes.  
     
     
         12 . A method as claimed in  claim 11 , wherein the restriction enzyme Dsa I is used.

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