5 types Corneal Dystrophy (CD)Genotyping Kit 

Real-Time PCR (or Multiplex allele-specific PCR) based assay system for the genotyping

of the SNP of codon 124, 555(exon4) in TGFβ1 related to avellino corneal dystrophy

Genetic information

The TGFβI gene is firstly appear at the 5q31 chromosome related corneal dystrophy on the corneal epithelium. Morbid cover of TGFβI is detected from the cornea, so we suppose the cause of disease related on 5q31 chromosome. There are Avellino Corneal Dystrophy(ACD), Reis-Bückler’s Corneal dystrophy(RBCD), lattice Corneal dystrophy(LCD), granular Corneal dystrophy(GCD type1), Thiel-Behnke Corneal Dystrophy(TBCD) which are related with chromosome 5q31 and TGFβI gene. The IC3D had classified the diseases as category1. Although there are some remedies like sublayer corneal transplantation and penetrating keratoplasty, there are many cases that the disease recur after the operation. In case of heterozygote people perform the laser surgery such as like LASEK or LASIK. There is possibility of lose eye sight caused by corneal opacity. The Coneal Dystrophy genetic diagnosis before LASEK, LASEK surgery is kind of essential clinical test.

Product Specification

Detection target SNP of codon 124, 555 in TGFβI (R124H, R124L, R124C, R555Q, R555W)

Detection technology Real-Time PCR

Specimen type Blood, Buccal epithelial cell

Compatible

instruments*

ABI 7500 / 7500 Fast Real-Time PCR System (Applied Biosystems)

CFX96™ Real-Time PCR System (Bio-Rad)

PCR running time ~ 3hr

* Please inquire us for compatible instrument information before use.

Product Features

- HotStart PCR system : Ultra high specific and sensitive result

- UDG system : No carryover contamination

- Multiplex PCR : Multiple targets in a single reaction

- Reliable system : Automatic Internal control (DiaPlexC ™)

- Positive control included

- Easy-to-use master mix

- CE certification

Reference

1. Ridgway AEA, Moller HU (1992) Genetics of granular dystrophy. Ophthalmology 99:175

2. Rogers C, Cohen P, Lawless M (1993) Phototherapeutic keratectomy for Reis-Bucklers‘corneal dystrophy. Aust N Z J Ophthalmol 21:247–25

3. Munier FL, Korvatska E, Djema¨ı A, Le Paslier D, Zografos L, Pescia G, Schorderet DF(1997) Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 15:247–25

4. Garner A. Histochemistry of corneal granular dystrophy. Br J Ophthalmol 1969;53:799 805.

5. Akiya S, Brown SI. Granular dystrophy of the cornea: characteristic electron microscopic lesion. Arch Ophthalmol 1970;84:179–92.

6. Owens SL, Sugar J. Edward DP. Superficial granular corneal dystrophy with amyloid deposit. Arch Ophthalmol 1992;110:175–6.

7. Holland EJ, Daya SM, Stone EM, et al. Avellino corneal dystrophy: clinical manifestations and natural history. Ophthalmology 1992;99:1564–8.

Result & Data interpretation

 

Ordering Information