Method and apparatus for diagnosing age-related macular degeneration
AssigneeUniversity of Regensburg
InventorsBernhard H.F. Weber, Thomas Loenhardt, Andrea Milenkovic, Lars G. Fritsche
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Abstract
Disclosed is a method for identifying an individual who has an altered risk for developing age-related macular degeneration comprising detecting an insertion/deletion polymorphism in the ARMS2 gene
Claims20
A method for diagnosing a susceptibility to age-related macular degeneration in a human subject, the method comprising the steps of:
- amplifying a nucleic acid sequence containing position 3143 of SEQ ID NO. 1 using a first primer that binds upstream of said position and a second primer that binds downstream of said position;
- detecting an insertion/deletion polymorphism starting at position 3143 of SEQ ID NO. 1;
- and
- determining the genotype of the subject at position 3143 of SEQ ID NO. 1,
- wherein a homozygote for the insertion/deletion polymorphism is predictive of susceptibility to age-related macular degeneration and a heterozygote for the insertion/deletion polymorphism is predictive of a carrier for susceptibility to age-related macular degeneration.
A method for diagnosing a susceptibility to age-related macular degeneration in a human subject, the method comprising the steps of:
- detecting the presence of mRNA corresponding to the age-related maculopathy susceptibility 2 (ARMS2) gene in a sample obtained from the human subject, wherein the absence of mRNA corresponding to the ARMS2 gene is predictive of susceptibility to age-related macular degeneration.
An apparatus for detecting a nucleotide in a nucleic acid sequence, the apparatus comprising:
- a substrate;
- and
- a first oligonucleotide bound to the substrate, the first oligonucleotide comprising a contiguous nucleic acid sequence complementary to SEQ ID NO. 1 containing position 3143 of the sequence.
The apparatus of claim 9, further comprising a second oligonucleotide bound to the substrate, the second oligonucleotide comprising a contiguous nucleic acid sequence complementary to SEQ ID NO. 2 containing position 104 of the sequence.
A nucleic acid comprising a sequence selected from the group consisting of:
- a) a nucleic acid sequence comprising SEQ ID NO. 3 or 4;
- b) a complement of a nucleic acid sequence comprising SEQ ID NO. 3 or 4;
- c) a fragment of either a) or b);
- d) a nucleic acid sequence capable of hybridizing to any one of a), b) or c);
- and
- e) a nucleic acid sequence that exhibits greater than about 70% sequence identity with the nucleic acids defined in a), b) or c).
A method of predicting susceptibility to age-related macular degeneration in a human subject, comprising the steps of:
- obtaining a biological sample from the human subject;
- exposing the biological sample to an antibody that recognizes a polypeptide corresponding to the age-related macular degeneration susceptibility 2 (ARMS2) gene;
- and
- detecting the presence of the antibody/polypeptide complex,
- wherein the absence of binding between the antibody and the polypeptide is predictive of susceptibility to age-related macular degeneration.
An antibody or fragment thereof that specifically binds the polypeptide VLDPGVG (SEQ ID NO. 5).
A system for analyzing a biological sample comprising:
- a) a determination module configured to receive a biological sample and to determine sequence information, wherein the sequence information comprises:
- expression of age-related maculopathy susceptibility 2 (ARMS2) gene or an insertion/deletion polymorphism starting at position 3143 of SEQ ID NO. 1;
- c) a storage device configured to store sequence information from the determination module;
- d) a comparison module adapted to compare the sequence information stored on the storage device with reference data, and to provide a comparison result, wherein the comparison result is a level of ARMS2 gene expression compared to the reference data or is the presence or absence of the insertion/deletion polymorphism starting at position 3143 of SEQ ID NO.1;
- and
- e) a display module for displaying a content based in part on the comparison result for the user, wherein the content is a signal indicative of age-related macular degeneration.
A computer readable medium having computer readable instructions recorded thereon to define software modules including a comparison module and a display module for implementing a method on a computer, said method comprising:
- a) comparing with the comparison module the data stored on a storage device with reference data to provide a comparison result, wherein the comparison result is a level of ARMS2 gene expression compared to the reference data or is the presence or absence of the insertion/deletion polymorphism starting at position 3143 of SEQ ID NO.1;
- and
- b) displaying a content based in part on the comparison result for the user, wherein the content is a signal indicative of age-related macular degeneration.
Dependencies are inferred from the claim text.