US2023220468A1PendingUtilityA1

Methods for detecting a genetic variation in attractin-like 1 (atrnl1) gene in subject with parkinson's disease

Assignee: THE RESEARCH FOUNDATION OF STATE OF UNIV OF NEW YORKPriority: Nov 4, 2011Filed: Oct 20, 2021Published: Jul 13, 2023
Est. expiryNov 4, 2031(~5.3 yrs left)· nominal 20-yr term from priority
C12Q 1/6883C12Q 2600/156C12Q 2600/158G01N 33/5005G01N 33/5058G01N 33/48C12Q 1/6809C12Q 1/686C12Q 1/6827C12Q 1/6813C12Q 1/6869G01N 33/5023G01N 33/6896
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Claims

Abstract

This document provides methods and materials related to genetic variations of neurological disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Parkinson's disease.

Claims

exact text as granted — not AI-modified
1 - 199 . (canceled) 
     
     
         200 . A method comprising:
 (a) (i) hybridizing a nucleic acid probe to a polynucleic acid from a human subject by a nucleic acid hybridization or a microarray analysis, or   (a) (ii) synthesizing a nucleic acid product from a polynucleic acid from a human subject by PCR or sequencing, wherein the human subject has a neurological disorder; and   (b) detecting a one or more genetic variations by the nucleic acid hybridization, microarray analysis, PCR or sequencing, wherein the one or more genetic variations comprise a first genetic variation that disrupts or modulates a PLCL1 gene.   
     
     
         201 . The method of  claim 200 , wherein the neurological disorder is a movement disorder. 
     
     
         202 . The method of  claim 200 , wherein the neurological disorder is Parkinson's disease or the human subject has symptoms of Parkinson's disease. 
     
     
         203 . The method of  claim 200 , wherein the first genetic variation is a copy number variation (CNV). 
     
     
         204 . The method of  claim 203 , wherein the CNV is a loss. 
     
     
         205 . The method of  claim 203 , wherein the CNV is a loss of SEQ ID NO: 42 and the complement thereof. 
     
     
         206 . The method of  claim 203 , wherein the CNV is a loss of the 7,945 base pair sequence from position 198497294 to 198505239 in chromosome 2, and the complement thereof, wherein the chromosome positions are defined with respect to NCBI build 36/hg18. 
     
     
         207 . The method of  claim 200 , wherein the first genetic variation is in chromosome 2. 
     
     
         208 . The method of  claim 200 , wherein the nucleic acid product synthesized from the polynucleic acid is cDNA. 
     
     
         209 . The method of  200 , wherein the polynucleic acid comprises a polynucleic acid from blood, saliva, urine, serum, tears, skin, tissue, or hair from the subject. 
     
     
         210 . The method of  claim 200 , wherein the method comprises purifying the polynucleic acid and performing a microarray analysis of the purified polynucleic acid. 
     
     
         211 . The method of  claim 200 , wherein the microarray analysis is selected from the group consisting of a Comparative Genomic Hybridization (CGH) array analysis and an SNP array analysis. 
     
     
         212 . The method of  claim 200 , wherein the sequencing is a high-throughput sequencing method. 
     
     
         213 . The method of  claim 200 , wherein the whole genome or the exome of the subject is analyzed. 
     
     
         214 . The method of  claim 200 , wherein the first genetic variation and a second genetic variation are in a panel comprising two or more genetic variations. 
     
     
         215 . A method comprising administering a therapeutic agent that treats or slows the progression of one or more symptoms of parkinsonism to a human subject with parkinsonism, wherein the human subject has been identified as comprising one or more genetic variations, wherein the one or more genetic variations comprises a first genetic variation is a genetic variation in chromosome 2 that disrupts or modulates a PLCL1 gene. 
     
     
         216 . The method of  claim 215 , wherein the first genetic variation is a copy number variation (CNV). 
     
     
         217 . The method of  claim 216 , wherein the CNV is a loss. 
     
     
         218 . The method of  claim 216 , wherein the CNV is a loss of SEQ ID NO: 42 and the complement thereof. 
     
     
         219 . The method of  claim 216 , wherein the CNV is a loss of the 7,945 base pair sequence from position 198497294 to 198505239 in chromosome 2, and the complement thereof, wherein the chromosome positions are defined with respect to NCBI build 36/hg18.

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