ABCA4 gene

ABCA4 gene

A gene that codes for a transporter protein found in the photoreceptor membrane disks in retinal rod cells. Mutations cause retinal degenerative diseases such as Stargardt's macular dystrophy, cone-rod dystrophy and some recessive forms of RETINITIS PIGMENTOSA.
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The disease is caused by a mutation in the ABCA4 gene, which leads to the accelerated formation and accumulation of toxic vitamin A dimers in the retina that cause progressive retinal cell death and permanent loss of vision.
Autosomal recessive STGD is frequently caused by seven specific mutations of the ABCA4 gene in South African whites, particularly those of Afrikaner ancestry.
The StarGen treatment involves the injection of a man-made virus that delivers a healthy copy of the ABCA4 gene into cells in the retina.
Because of the high frequency of polymorphisms, which add to the complexity of the molecular genotype, and the relatively large size of the gene, which contains 50 exons, molecular scanning of the ABCA4 gene is particularly cumbersome.
For validation of the DHPLC assay, we subjected samples from 23 STGD patients identified through our previous mutational screening (4) as carrying 40 different mutations and polymorphisms, for a total of 132 sequence alterations, to DHPLC profiling of the entire coding sequence of the ABCA4 gene to assess the sensitivity and the efficiency of the DHPLC system in identifying ABCA4 mutations compared with DG-DGGE.
The optimized elution profiles and melting temperatures of the entire coding sequence and flanking regions of the ABCA4 gene are presented in Table 2 of the online Data Supplement.
Because of the high frequency of polymorphisms in the ABCA4 gene, some regions displayed altered chromatographic patterns.
In the present study, in an attempt to progress to an automated, high-throughput strategy, we established DHPLC conditions for all 50 exons of the ABCA4 gene and compared these assays with DG-DGGE to assess their effectiveness as screening methods for gene variants.
We had failed to develop DG-DGGE conditions for the analysis of four exons of the ABCA4 gene, which had to be sequenced directly without a previous prescreening method.
After PCR amplification, complete DHPLC screening of the ABCA4 gene in 96 samples (in a 96-well plate format) can be performed in less than 1 month (10 analysis/h).
Recently, a reliable and comprehensive mutation detection tool, the ABCA4 gene chip (ABCR400), was developed, which contains all known genetic variations in the ABCA4 gene (10).
StarGen is designed to deliver a corrected version of the ABCA4 gene into the cells of the retina using the company's LentiVector technology.