Based on the technology that we have developed and produced from various research reagents to molecular diagnostic kits, we will do our best to become a Global Leader in the molecular diagnostic market.
24 Hours
Title Image

DiaPlexC™ Avellino Corneal Dystrophy (ACD) Genotyping Kit

DiaPlexC™ Avellino Corneal Dystrophy (ACD) Genotyping Kit

Multiplex allele-specific PCR based assay system for the genotyping of the ACD gene SNP related to avellino corneal dystrophy
CE-IVD

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.

Specification

DiaPlexC™ Avellino Corneal Dystrophy (ACD) PCR Genotyping Kit
Detection target SNP of R124 (βigh3 coding gene codon 124, exon4)
Registration CE-IVD
Detection technology Conventional (End-point) Multiplex PCR
Specimen type Blood, Buccal epithelial cell, Hair (root)
Compatible instruments* ABI Veriti thermal Cycler (Applied Biosystems) recommended
PCR running time ~ 1hr 30 min

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 ( DiaPlex C™)
– Positive control included
– Easy-to-use master mix
– CE certification

Experimental

Lane Interpretation (detection)
1 ACD (G/G homozygote, normal)
2 ACD (G/A heterozygote, mutant)
3 ACD (A/A homozygote, mutant)
4 Required re-experiment

Citation&Papers

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.

Klintworth GK.

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

Konishi M, Mashima Y, Nakamura Y, et al.

Granular-lattice (Avellino) corneal dystrophy in Japanese patients. Cornea 1997; 16: 635-8.

Ordering information

Technology Cat. No. Product Contents
Conventional (End-point) PCR SHG06-K020
(20 reaction)
DiaPlexC™ Avellino Corneal Dystrophy (ACD)
Genotyping Kit
2X Multiplex PCR Smart mix (with UDG) (ACD)
Primer Mixture (ACD)
Standard Marker (ACD)
Wild type Control (ACD)
Mutant type Control (ACD)
Nuclease free Water
SHG06-K100
(100 reaction)