Method for diagnosing diabetic retinopathy by single nucleotide polymorphism, DNA fragment thereof, and primer thereof
Inventors
Cho, Yang-Je • Ahn, Bo-Young • Kwon, Oh-Woong • Kim, Suk-Joon • Hong, Sun-Pyo • Yoo, Wang-Don • Kim, Soo-Ok
Assignees
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Publication Number
US-7897739-B2
Publication Date
2011-03-01
Expiration Date
Abstract
Disclosed is a method for diagnosing diabetic retinopathy by a single nucleotide polymorphism of VEGF and its receptor.
Core Innovation
The invention relates to diagnosing diabetic retinopathy using genetic markers, including SNPs in VEGF and VEGF receptor genes. It specifies DNA fragments associated with the VEGF receptor gene, including a DNA fragment comprising the sequence set forth in SEQ ID NO:11.
The invention provides defined nucleic acid reagents for diabetic retinopathy diagnosis, including forward primers selected from primers having the sequence set forth in SEQ ID NO:2, SEQ ID NO:7, and SEQ ID NO:12. It further provides primer sets that include corresponding reverse primers, specifically primer pairs comprising SEQ ID NO:2 and SEQ ID NO:3, SEQ ID NO:7 and SEQ ID NO:8, and SEQ ID NO:12 and SEQ ID NO:13.
The invention also discloses diagnostic SNP genotyping based on genotype-dependent DNA fragment patterns. It includes cleavage-based analysis using restriction digestion enzymes such as FokI and BstF5I following amplification, and fragment mass measurement including MALDI-TOF to determine SNP genotypes, with example data linking rare alleles of VEGF SNPs rs3025039 and rs3025040 and a VEGFR SNP rs3812867 to increased diabetic retinopathy risk.
Claims Coverage
The independent claims cover three main inventive features across the genetic materials used for diagnosis: a VEGF receptor gene DNA fragment defined by SEQ ID NO:11, forward primers selected from three specified sequence identifiers, and diagnostic primer sets defined by three specific forward/reverse sequence pairings. Each inventive feature is anchored to exact sequence identities.
Vascular endothelial growth factor receptor DNA fragment comprising SEQ ID NO:11
A DNA fragment for diagnosing diabetic retinopathy, wherein the DNA fragment is a DNA fragment of the VEGF receptor gene comprising the sequence set forth in SEQ ID NO:11.
Forward primer selected from SEQ ID NO:2, SEQ ID NO:7, or SEQ ID NO:12
A forward primer for use in a method of diagnosing diabetic retinopathy, selected from a primer having the sequence set forth in SEQ ID NO:2, SEQ ID NO:7, or SEQ ID NO:12.
Primer set selected from SEQ ID NO:2/3, SEQ ID NO:7/8, or SEQ ID NO:12/13
A primer set for use in a method of diagnosing diabetic retinopathy, selected from a forward primer having the sequence set forth in SEQ ID NO:2 and a reverse primer having the sequence set forth in SEQ ID NO:3, a forward primer having the sequence set forth in SEQ ID NO:7 and a reverse primer having the sequence set forth in SEQ ID NO:8, or a forward primer having the sequence set forth in SEQ ID NO:12 and a reverse primer having the sequence set forth in SEQ ID NO:13.
Overall, the independent claims directly cover defined VEGF receptor diagnostic DNA and sequence-specific primer components for methods diagnosing diabetic retinopathy, with each inventive feature defined by precise sequence identifiers.
Stated Advantages
Rare alleles of VEGF SNPs rs3025039 and rs3025040 and a VEGFR SNP rs3812867 are associated with increased diabetic retinopathy risk, with statistical significance.
The invention has stated industrial applicability.
Documented Applications
Diagnosing diabetic retinopathy using SNP genotyping based on VEGF and VEGF receptor gene markers, including use of a VEGF receptor gene DNA fragment (SEQ ID NO:11) and sequence-defined primer components for a diagnostic method.
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