Correlation between electroretinographic findings, clinical phenotypic and genotypic analysis in Duchenne and Becker muscular dystrophy
10.3760/j.issn:1003-9406.2001.01.010
- VernacularTitle:进行性肌营养不良患者视网膜眼电图表型与临床分型及基因型的关系
- Author:
Yu YANG
1
;
Cheng ZHANG
;
Wenli SHENG
;
Suyue PAN
;
Dezheng WU
;
Futian JIANG
Author Information
1. 中山医科大学附属第一医院
- From:
Chinese Journal of Medical Genetics
2001;18(1):32-34
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the relationship between electrophysiological changes, clinical phenotype and genotype in Duchenne and Becker muscular dystrophy(DMD/BMD), to address the expression and roles of dystrophin and its isoforms on the retina, and to inquire into the molecular mechanism of the abnormal electroretinogram(ERG) on DMD/BMD patients with different genotype.Methods Gene deletions were screened by multiplex DNA amplification with eleven primers on twenty-two consecutive patients with DMD and BMD, and then, the ERG was tested according to international ERG standard.Results ERG phenotype was associated with the site of DMD gene defects rather than the severity of the phenotype. Patients with deletion in the central region of the gene had more severe changes in the scotopic ERG as compared to those with gene non-deletion.Conclusion The ERG genotype-phenotype correlation suggests that DP260 may play the most important role in the retinal neurotransmission.
