US2005003385A1PendingUtilityA1

Isolated DNA or gene responsible for Parkinson's disease

Assignee: BOEHRINGER INGELHEIM INTPriority: Feb 9, 1998Filed: Feb 12, 2004Published: Jan 6, 2005
Est. expiryFeb 9, 2018(expired)· nominal 20-yr term from priority
A61P 25/16A61K 38/00C07K 14/47
48
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Claims

Abstract

This invention provides an isolated DNA or gene that is responsible for Parkinson's disease and is useful in diagnosing and treating the disease etc. The isolated DNA or gene according to this invention comprises a full-length base sequence according to the sequence ID. No. 1 or 3, or a partial sequence thereof, or a base sequence hybridizable thereto or hybridizable with a complementary strand thereof, and being associated with Parkinson's disease.

Claims

exact text as granted — not AI-modified
1 - 42  (Cancelled).  
     
     
         43 . A method of detecting a neurological disorder in a patient, the method comprising: 
 (a) obtaining DNA from the patient;    (b) creating a mixture by contacting the DNA with a polynucleotide having a nucleotide sequence that is either identical or complementary to a nucleotide sequence which is adjacent to an exon of SEQ ID NO:1 under conditions which promote specific hybridization between the polynucleotide and the DNA; and    (c) detecting whether hybridization between the polynucleotide and the DNA has occurred.    
     
     
         44 . The method of  claim 43 , wherein the neurological disorder is Parkinsonism.  
     
     
         45 . The method of  claim 44 , wherein the neurological disorder is autosomal recessive juvenile Parkinsonism.  
     
     
         46 . The method of  claim 43 , wherein a polymerase chain reaction is used on the mixture of (b) to amplify a portion of the DNA and determining if the portion of the DNA is amplified.  
     
     
         47 . The method of  claim 46 , wherein the neurological disorder is Parkinsonism.  
     
     
         48 . The method of  claim 47 , wherein the neurological disorder is autosomal recessive juvenile Parkinsonism.  
     
     
         49 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 1.  
     
     
         50 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 2.  
     
     
         51 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 3.  
     
     
         52 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 4.  
     
     
         53 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 5.  
     
     
         54 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 6.  
     
     
         55 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 7.  
     
     
         56 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 8.  
     
     
         57 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 9.  
     
     
         58 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 10.  
     
     
         59 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 11.  
     
     
         60 . The method of  claim 43 , wherein the adjacent sequence is adjacent to exon 12.  
     
     
         61 . The method of  claim 43 , wherein the polynucleotide in (b) is between 10 to 25 nucleotides in length.  
     
     
         62 . A method of detecting a neurological disorder in a patient, the method comprising: 
 (a) obtaining DNA from the patient;    (b) creating a mixture under conditions which promote specific hybridization by contacting the DNA with a polynucleotide having a nucleotide sequence selected from the group consisting of:    i. SEQID NO:31;    ii. SEQ ID NO:32;    iii. SEQ ID NO:33;    iv. SEQ ID NO:34;    V. SEQ ID NO:35;    vi. SEQ ID NO:36;    vii. SEQ ID NO:37;    viii. SEQ ID NO:38;    ix. SEQ ID NO:39;    x. SEQ ID NO:40;    xi. SEQ ID NO:41;    xii. SEQ ID NO:42;    xiii. SEQ ID NO:43;    xiv. SEQ ID NO:44;    xv. SEQ ID NO:45;    xvi. SEQ ID NO:46;    xvii. SEQ ID NO:47;    xviii. SEQ ID NO:48;    xix. SEQ ID NO:49;    xx. SEQ ID NO:50;    xxi. SEQ ID NO:51;    xxii. SEQ ID NO:52;    xxiii. SEQ ID NO:53;    xxiv. SEQ ID NO:54;    xxv. SEQ ID NO:55;    xxvi. SEQ ID NO:56;    xxvii. SEQ ID NO:57;    xxviii. SEQ ID NO:58;    xxix. SEQ ID NO:59;    xxx. nucleotides 351-371 of SEQ ID NO:1;    xxxi. SEQ ID NO:70; and    xxxii. a nucleotide sequence complementary to any one of the nucleotide sequences of (i), (ii), (iii), (iv), (v), (vi), (vii), (viii), (ix), (x), (xi), (xii), (xiii), (xiv), (xv), (xvi), (xvii), (xviii), (xix), (xx), (xxi), (xxii), (xxiii), (xxiv), (xxv), (xxvi), (xxvii), (xxviii), (xxix), (xxx), and (xxxi); and    (c) detecting whether hybridization between the polynucleotide and the DNA has occurred.    
     
     
         63 . The method of  claim 62 , wherein the neurological disorder is Parkinsonism.  
     
     
         64 . The method of  claim 63 , wherein the neurological disorder is autosomal recessive juvenile Parkinsonism.  
     
     
         65 . The method of  claim 62 , wherein a polymerase chain reaction is used on the mixture of (b) to amplify a portion of the DNA and determining if the portion of the DNA is amplified.  
     
     
         66 . The method of  claim 65 , wherein the neurological disorder is Parkinsonism.  
     
     
         67 . The method of  claim 66 , wherein the neurological disorder is autosomal recessive juvenile Parkinsonism.  
     
     
         68 . A method of detecting a neurological disorder in a patient, the method comprising: 
 (a) obtaining DNA from the patient;    (b) creating a mixture by contacting the DNA with a polynucleotide having a nucleotide sequence that is either identical or complementary to a nucleotide sequence which is adjacent to an exon of SEQ ID NO:3 under conditions which promote specific hybridization between the polynucleotide and the DNA; and    (c) detecting whether hybridization between the polynucleotide and the DNA has occurred.    
     
     
         69 . The method of  claim 68 , wherein a polymerase chain reaction is used on the mixture of (b) to amplify a portion of the DNA and determining if the portion of the DNA is amplified.  
     
     
         70 . A method of determining a predisposition for a neurological disorder in a human subject, the method comprising: 
 (a) obtaining a nucleic acid sample from the human subject;    (b) assaying the nucleic acid sample to determine the presence or absence of a Parkin gene mutation associated with the neurological disorder, wherein the Parkin gene mutation is a partial or complete deletion of at least one of exons 3, 4, 5, 6 and 7 of SEQ ID NO:1, and    wherein the presence of the Parkin gene mutation indicates that the human subject has a predisposition for the neurological disorder.    
     
     
         71 . The method of  claim 70 , wherein the neurological disorder is Parkinsonism.  
     
     
         72 . The method of  claim 71 , wherein the neurological disorder is autosomal recessive juvenile Parkinsonism.  
     
     
         73 . The method of  claim 70 , wherein the assaying in (b) comprises contacting the nucleic acid with a polynucleotide hybridizable with the nucleic acid and carrying out a polymerase chain reaction.  
     
     
         74 . A method of determining a predisposition for a neurological disorder in a human subject, the method comprising: 
 (a) obtaining a nucleic acid sample from the human subject;    (b) assaying the nucleic acid sample to determine the presence or absence of a Parkin gene mutation associated with the neurological disorder, wherein the Parkin gene mutation is a partial or complete deletion of at least one of exons 3, 4, 6 and 7 of SEQ ID NO:3, and    wherein the presence of the Parkin gene mutation indicates that the human subject has a predisposition for the neurological disorder.    
     
     
         75 . The method of  claim 74 , wherein the neurological disorder is Parkinsonism.  
     
     
         76 . The method of  claim 75 , wherein the neurological disorder is autosomal recessive juvenile Parkinsonism.  
     
     
         77 . The method of  claim 74 , wherein the assaying in (b) comprises contacting the nucleic acid with a polynucleotide hybridizable with the nucleic acid and carrying out a polymerase chain reaction.  
     
     
         78 . A method of determining a predisposition of a human subject for Parkinson's disease, the method comprising: 
 (a) obtaining a nucleic acid sample from the human subject; and    (b) determining whether a point mutation is present at position 366 of SEQ ID No:1 or SEQ ID NO:3,    wherein the presence of a point mutation at position 366 of SEQ ID NO:1 or SEQ ID NO:3 indicates a predisposition for Parkinson's disease.    
     
     
         79 . The method of  claim 78 , wherein the point mutation is an Arg to Trp mutation.

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