Avellino Corneal Dystrophy (ACD) Genotyping Kit  

Real-Time PCR (or Multiplex allele-specific PCR) based assay system for the genotyping of the ACD gene SNP related to avellino corneal dystrophy

Genetic information

ACD is a hereditary disease and one of the corneal dystrophies involving the formation of corneal opacities on different Layers of the corneal stroma, which leads to significant impairment of the corneal transparency and refraction. ACD is caused by the formation and deposition of abnormal hyaline protein which is generated by the replacement of histidine from arginine due to the mutation of cordon 124 (exon 4) in the βigh 3 gene. The deposited abnormal hyaline protein is usually known as kerato-epithelin and forms a granular, lattice precipitate causing visual impairment and might lead to blindness if it remains undiagnosed. Genetic mutation is highly accelerated after laser eye surgery in those people who have ACD, causing a worsening in vision rather than improvement after surgery. The awareness of ACD has developed across the world, with some opticians now refusing access to LASIK in patients with ACD due to the harmful effects the

procedure has on patients.

Product Specification

* 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. Kocak-Atlintas AG, Kocak-Midillioglu I, Akarsu AN, Duman S. βigh gene analysis in the different diagnosis of corneal dystrophies. Cornea 2001; 20: 64-8.

2. Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J phthalmol 1999; 128: 747-54.

3. Konishi M, Mashima Y, Nakamura Y, et al. Granular-lattice (Avellino) corneal dystrophy in Japanese patients. Cornea 1997; 16: 635-8.

Result & Data interpretation 

Ordering Information