Stargardt's disease and mutations of ABCR gene / 中华眼底病杂志

Objective To investigate the disease causing gene of Stargardt disease. Method Fifteen patients with Stargardt disease were analyzed with 11 primers of the 11 exons of ABCR gene by using PCR SSCP and DNA direct sequencing techniques. Results Three newly detected disease causing mutations were found. Among those mutations, one is a frameshift mutation and others are single base transition. Conclusion This research confirmed that ABCR gene is associated with Stargardt disease, and 3 new mutations of ABCR gene were found.