Identification of mutation of the X-linked juvenile retinoschisis gene
- VernacularTitle:先天性视网膜劈裂症基因突变的分析
- Author:
Ling GAO
;
Jianlin ZHOU
;
Yaping WANG
- Publication Type:Journal Article
- Keywords:
Retinal diseases/congenital;
X-linked juvenile retinoschisis;
DNA mutational analysis
- From:
Chinese Journal of Ocular Fundus Diseases
2001;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the pathogenesy and mutation of X-linked juvenile retinoschisis (XLRS) 1 gene in XLRS families, and to provide the theory basis in directing gene diagnosis. Methods The mutation of XLRS1 gene code in two XLRS families were detected and screened by polymerase chain reaction (PCR) and DNA direct sequence determination. Results Pro193Ser mutation was detected in family 1. Conclusion Pro193Ser mutation could be found in XLRS families, which can be used for genetic consultation and prenatal gene diagnosis.
