Large scale genotyping of diseases and a diagnostic test for spinocerebellar ataxia type 6
First Claim
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1. A method of screening individuals at risk for developing autosomal dominant spinocerebellar ataxia type 6 caused by a trinucleotide CAG repeat sequence instability, comprising the steps of:
- labeling at least one oligonucleotide primer for amplifying CAG repeat sequences in a genomic DNA sample;
amplifying genomic DNA CAG repeat sequence by polymerase chain reaction using said labeled oligonucleotide primer to produce amplified sample genomic DNA fragments;
electrophoresing said amplified sample genomic DNA fragments to produce a sample electrophoresis pattern;
amplifying a control genomic DNA CAG repeat sequence by polymerase chain reaction using said labeled oligonucleotide primer to produce amplified control genomic DNA fragments;
electrophoresing said amplified control genomic DNA fragments to produce a control electrophoresis pattern;
comparing said sample electrophoresis pattern to said control electrophoresis pattern; and
determining whether said individual to be tested may be at risk for developing autosomal dominant spinocerebellar ataxia type 6 caused by CAG repeat sequence instability, wherein if said sample genomic DNA electrophoresis pattern contains labeled fragments larger than labeled fragments from said control genomic DNA electrophoresis pattern, said individual may be at risk for developing autosomal dominant spinocerebellar ataxia type 6 caused by trinucleotide repeat sequence instability.
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Abstract
The present invention provides a method of screening individuals at risk for developing diseases caused by trinucleotide repeat sequence instability. Specifically, the present invention is drawn to screening individuals at risk for developing autosomal dominant spinocerebellar ataxia type 6 by determining the length of a CAG trinucleotide repeat in the α1A calcium channel gene of the individual. In addition, there is provided a method of identifying genes which are disease-causing due to trinucleotide repeat sequence instability by large scale genotyping.
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3 Claims
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1. A method of screening individuals at risk for developing autosomal dominant spinocerebellar ataxia type 6 caused by a trinucleotide CAG repeat sequence instability, comprising the steps of:
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labeling at least one oligonucleotide primer for amplifying CAG repeat sequences in a genomic DNA sample; amplifying genomic DNA CAG repeat sequence by polymerase chain reaction using said labeled oligonucleotide primer to produce amplified sample genomic DNA fragments; electrophoresing said amplified sample genomic DNA fragments to produce a sample electrophoresis pattern; amplifying a control genomic DNA CAG repeat sequence by polymerase chain reaction using said labeled oligonucleotide primer to produce amplified control genomic DNA fragments; electrophoresing said amplified control genomic DNA fragments to produce a control electrophoresis pattern; comparing said sample electrophoresis pattern to said control electrophoresis pattern; and determining whether said individual to be tested may be at risk for developing autosomal dominant spinocerebellar ataxia type 6 caused by CAG repeat sequence instability, wherein if said sample genomic DNA electrophoresis pattern contains labeled fragments larger than labeled fragments from said control genomic DNA electrophoresis pattern, said individual may be at risk for developing autosomal dominant spinocerebellar ataxia type 6 caused by trinucleotide repeat sequence instability. - View Dependent Claims (2, 3)
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Current AssigneeResearch & Development Foundation
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Original AssigneeResearch & Development Foundation
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InventorsLee, Cheng-Chi
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Primary Examiner(s)Jones, W. Gary
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Assistant Examiner(s)SHOEMAKER, DEBRA GUNNERSEN
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Application NumberUS08/779,801Time in Patent Office721 DaysField of Search435/6, 435/91.1, 435/91.2, 435/91.5, 536/24.3, 536/24.33, 935/6, 935/77, 935/78, 935/8US Class Current435/6.12CPC Class CodesC12Q 1/6883 for diseases caused by alte...C12Q 2600/156 Polymorphic or mutational m...
