Method of detection of allelic variants of SCA2 gene

• US 6,623,927 B1
• Filed: 11/08/2000
• Issued: 09/23/2003
• Est. Priority Date: 11/08/2000
• Status: Expired due to Fees

• Current Assignee: Council of Scientific & Industrial Research
• Original Assignee: Council of Scientific & Industrial Research
• Inventors: Jain, Satish, Mukerji, Mitali, Choudhry, Shweta, Brahmachari, Samir Kumar
• Primary Examiner(s): Benzion, Gary
• Assistant Examiner(s): GOLDBERG, JEANINE ANNE
• Application Number:
  US09/707,919
• Time in Patent Office: 1,049 Days
• Field of Search: 435/6, 536/23.1, 536/24.3, 536/24.31
• US Class Current: 435/6.18
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers

Abstract

The present invention relates to allelic variants of human Spinocerebellar ataxia 2 (SCA2) gene and provides allele-specific primers and probes suitable for detecting these allelic variants for applications such as molecular diagnosis, prediction of an individual'"'"'s disease susceptibility, and/or the genetic analysis of SCA2 gene in a population.

Claims

1. A diagnostic kit for the detection of SNP haplotypes (CC/GT) comprising at least one nucleic acid consisting of a nucleic acid selected from the group consisting of SEQ ID NO:

1-12.

2. An oligonucleotide primer consisting of a sequence selected from the group consisting of:

a) CTC CGC CTC AGA CTG TTT TGG TAG 3′

(SEQ ID NO;

     1); and

b) GTG GCC GAG GAC GAG GAG AC 3′

(SEQ ID NO;

     2) and complements thereof.

3. A method for predicting a risk of an individual to human spinocerebellar ataxia 2 (SCA2) disease, said method comprising:

a) amplifying genomic DNA of said individual using oligonucleotide primers to the CAG repeat-containing region of exon 1 of human SCA2 gene to obtain an amplified PCR product;

b) identifying the nucleotides present at the polymorphic sites at nucleotides 107 and 178 of SEQ ID NO;

13; and

c) predicting the risk of the individual to SCA2 disease based upon the haplotype present at the polymorphic sites at nucleotides 107 and 178 of SEQ ID NO;

13, wherein a G at position 107 of SEQ ID NO;

13 and a T at position 178 of SEQ ID NO;

13 haplotype is indicative of a lower risk of SCA2 disease, and wherein a C at position 107 of SEQ ID NO;

13 and a C at position 178 of SEQ ID NO;

13 haplotype is indicative of an increased risk for SCA2 disease.

4. The method as claimed in claim 3 wherein the primers are selected from the group consisting of:

a) CTC CGC CTC AGA CTG TTT TGG TAG 3′

(SEQ ID NO;

1);

b) GTG GCC GAG GAC GAG GAG AC 3′

(SEQ ID NO;

2); and

complements thereof.