Stargardt's disease and mutations of ABCR gene
- VernacularTitle:Stargardt病光感受器特异性ATP结合转运子基因突变
- Author:
Meihua LE
;
Lezheng WU
;
Youzhao CHEN
- Publication Type:Journal Article
- Keywords:
Macular degeneration/genetics;
Mutation;
ABCR transporters
- From:
Chinese Journal of Ocular Fundus Diseases
2000;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
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.
