Diagnostic method and kit for neuropsychiatric diseases using trinucleotide repeats sequence
First Claim
1. A diagnostic method for detecting spinocerebellar ataxia type III ("SCA III III") syndrome, comprising the steps of:
- attaching a portion (SEQ ID NO;
3) of a spinocerebellar ataxia type III ("SCA III") gene containing copies of 73 trinucleotide (CAG) repeat units to a substrate;
amplifying a DNA segment containing copies of the trinucleotide repeat units from the genomic DNA of a testee using two labeled primers (SEQ ID NO;
1 and SEQ ID. NO;
2) using a polymerase chain reaction (PCR) to produce a PCR product;
hybridizing the SCA III gene with the PCR product; and
analyzing the results of the hybridization.
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Abstract
The invention provides a diagnostic method and kits for SCA III syndrome. The method comprises attaching a portion of SCA III gene containing copies of 73 trinucleotide(CAG) repeat units to a substrate; amplifying a DNA segment containing copies of the trinucleotide repeat units from the genomic DNA of a testee using two labeled primers under the suitable condition for carrying out polymerase chain reaction (PCR); hybridizing the gene with the PCR product by amplifying DNA segment; and analyzing the results of the hybridization. A SCA III patient can be effectively diagnosed by examining the increase extent of the number of the TNR characteristic of the disease-associated gene with the aid of reverse dot hybridization technique or PCR-MPH. Useful for the diagnosis is a kit which comprises the substrate, two primers with a detectable label, which are used to amplify a DNA segment containing copies of the trinucleotide repeat unit from the genomic DNA of a testee, a buffer and a polymerase for polymerase chain reaction, a buffer for gene hybridization and an enzyme for color detection.
43 Citations
8 Claims
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1. A diagnostic method for detecting spinocerebellar ataxia type III ("SCA III III") syndrome, comprising the steps of:
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attaching a portion (SEQ ID NO;
3) of a spinocerebellar ataxia type III ("SCA III") gene containing copies of 73 trinucleotide (CAG) repeat units to a substrate;amplifying a DNA segment containing copies of the trinucleotide repeat units from the genomic DNA of a testee using two labeled primers (SEQ ID NO;
1 and SEQ ID. NO;
2) using a polymerase chain reaction (PCR) to produce a PCR product;hybridizing the SCA III gene with the PCR product; and analyzing the results of the hybridization.
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2. A diagnostic kit for detecting SCA III syndrome in a patient, comprising:
- a substrate to which a portion (SEQ ID NO;
3) of a SCA III gene said portion containing copies of 73 trinucleotide (CAG) repeat units is attached;two primers (SEQ ID NO;
1 and SEQ ID. NO;
2) labeled with a detectable label,a buffer and a polymerase for polymerase chain reaction; a buffer for gene hybridization; and an enzyme for color detection. - View Dependent Claims (3, 4, 5, 6)
- a substrate to which a portion (SEQ ID NO;
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7. A plasmid vector, pSCA III 73, under the Deposition No:
- KCTC 0435BP, which contains a portion of an SCA III gene (SEQ ID NO;
3) prepared from the genome of an SCA III syndrome patient.
- KCTC 0435BP, which contains a portion of an SCA III gene (SEQ ID NO;
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8. A plasmid vector, pSCA III 8, which contains a portion of an SCA III gene prepared from the genome of a normal individual.
Specification