DiaPlexC™ Avellino Corneal Dystrophy (ACD) Genotyping Kit

The Avellino Corneal Dystrophy (ACD) Genotyping Kit is designed to screen the single nucleotide polymorphism (SNP) of codon 124 (exon 4) of the βigh 3 gene responsible for Avellino Corneal Dystrophy, using Real-Time or Conventional Multiplex allele-specific PCRs. For more information, you can download our Patient and Professional guides for ACD on our Catalogue and Brochure page.

Pathogen 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 codon 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.

Detection Technology

Conventional PCR

Specimens

Blood, Buccal epithelial cell, Hair (root)

Target Genes

SNP of R124H (βigh3 coding gene Codon 124, exon4)

Features

HotStart PCR System: Ultra highly-specific and sensitive results.
Multiplex PCR: Multiplex targets in a single reaction.
Reliable System: Automatic PCR control and internal control.
Easy-to-use Master Mix: Just add the template and primer.
CE Certification.

Contents

2X Multiplex PCR Smart mix
Primer mixture
Standard marker
Mutant type control
Wild type control
Nuclease-free Water

References

1.Kocak-Atlintas AG, Kocak-Midillioglu I, Akarsu AN, Duman S. BIGH3 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, Ophthalmol 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