System for Diagnosing of Avellino Corneal Dystrophy

Abstract

The present invention relates to a system for diagnosing Avellino corneal dystrophy, and more particularly to a system for diagnosing Avellino corneal dystrophy, in which whether a sample is normal or Avellino corneal dystrophy is determined based on the ratio of the input first PGR amplification value and the second PGR amplification value. The system makes it possible to diagnosis Avellino corneal dystrophy in a simpler and accurate manner without being influenced by the doctor's skill. Particularly, the inventive system makes the overall process systematic, and thus provides accurate diagnosis. In addition, the system can also easily administer a number of test subjects.

What is claimed is: 
     
         1 . A system for diagnosing Avellino corneal dystrophy, the system comprising:
 (a) a client group comprising at least one client, which transmits information about a sample and a request for analysis through a network to a server comprising an input means to request a diagnostic service and receives and stores the data of determination of Avellino corneal dystrophy, which are transmitted from a server comprising an output means in response to the request;   (b) the input means for receiving the information about the sample, the request for analysis, a first PCR amplification value measured by adding to a sample DNA a primer pair capable of amplifying exon 4 of a transforming growth factor b-induced (TGFBI) gene and a probe capable of detecting a TGFBI gene containing no mutation in exon 4, and a second PCR amplification value measured by adding to the sample DNA the primer pair capable of amplifying exon 4 of TGFBI gene and a probe capable of detecting a TGFBI gene containing a mutation in exon 4;   (c) an analysis means wherein when the first PCR amplification value is 5-9 times the second PCR amplification value, the sample DNA is determined, to be normal, when the ratio of the first PGR amplification value to the second PGR amplification value is 1:1.5-1.5:1, the sample DNA is determined to be an Avellino corneal dystrophy heterozygote, and when the second. PGR amplification value is 5-9 times the first PGR amplification value, the sample DNA is determined to be an Avellino corneal dystrophy homozygote; and   (d) the output means for outputting the results of determination from the analysis means.   
     
     
         2 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , further comprising a display means that provides a two-dimensional allelic discrimination plot in which the first PGR amplification value and the second PGR amplification value are plotted along two axes. 
     
     
         3 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , wherein the first PGR amplification value and the second PGR amplification value are simultaneously measured by adding to the sample DNA the primer pair capable of amplifying exon 4 of the TGFBI gene, the probe capable of detecting the TGFBI gene containing no mutation in exon 4, and the probe capable of detecting the TGFBI gene containing a mutation in exon 4 to perform PGR. 
     
     
         4 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , wherein the information about the sample is one or more of the kind of sample, the client name, the client institution name, collection date, collection time, and contact. 
     
     
         5 . The system for diagnosing Avellino corneal dystrophy of  claim 4 , wherein the sample is any one of an oral mucosa cell, blood, and a hair root. 
     
     
         6 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , wherein the request for analysis comprises a written consent to genetic testing. 
     
     
         7 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , further comprising a PGR device that outputs the PGR amplification values, 
     
     
         8 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , further comprising a first calculating means that calculates the concentration and purity of the sample DNA by inputting the absorbance at 260 nm and the absorbance at 280 nm of the sample DNA, and a second calculating means that calculates the amounts of probes, the primer pair and distilled water. 
     
     
         9 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , wherein the primer pair capable of amplifying exon 4 of the TGFBI gene is a primer pair represented by SEQ ID NOS: 1 and 2. 
     
     
         10 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , wherein the probe capable of detecting the TGFBI gene containing no mutation in exon 4 is a probe capable of detecting a TGFBI gene containing “CGC” at codon 124. 
     
     
         11 . The system for diagnosing Avellino corneal dystrophy of  claim 10 , wherein the probe capable of detecting a TGFBI gene containing “CGC” at codon 124 is a probe represented by SEQ ID NO: 3. 
     
     
         12 . The system for diagnosing Avellino corneal dystrophy of  claim 1 , wherein the probe capable of detecting the TGFBI gene containing a mutation in exon 4 is a probe capable of detecting a TGFBI gene containing “CAC” at codon 124. 
     
     
         13 . The system, for diagnosing Avellino corneal dystrophy of  claim 12 , wherein the probe capable of detecting a TGFBI gene containing “CAC” at codon 124 is a probe represented by SEQ ID NO: 4.