Primers for diagnosing avellino corneal dystrophy

Abstract

The present invention relates to a real-time PCR primer pair and probe for diagnosing Avellino corneal dystrophy, and more particularly to a real-time PCR primer pair and probe for diagnosing Avellino corneal dystrophy, which can accurately diagnose the presence or absence of a mutation in exon 4 of BIGH3 gene, which is responsible for Avellino corneal dystrophy. The use of the primer pair and probe according to the invention can diagnose Avellino corneal dystrophy in a more rapid and accurate manner than a conventional method that uses a DNA chip or PCR.

1 . A real-time PCR primer pair for diagnosing Avellino corneal dystrophy, which is represented by nucleotide sequences selected from the group consisting of SEQ ID NOs: 1 and 2, SEQ ID NOs: 3 and 4, SEQ ID NOs: 5 and 6, SEQ ID NOs: 7 and 8, SEQ ID NOs: 9 and 10, SEQ ID NOs: 11 and 12, SEQ ID NOs: 13 and 14, SEQ ID NOs: 15 and 16, SEQ ID NOs: 17 and 18, SEQ ID NOs: 19 and 20, SEQ ID NOs: 21 and 22, and SEQ ID NOs: 23 and 24. 
     
     
         2 . A real-time PCR probe for diagnosing Avellino corneal dystrophy, which is represented by a nucleotide sequence selected from the group consisting of SEQ ID NO: 25 to SEQ ID NO: 42. 
     
     
         3 . The real-time PCR probe for diagnosing Avellino corneal dystrophy of  claim 2 , wherein the real-time PCR probe is labeled with VIC or FAM.