Study On The Myocilin Gene Mutation In Qingdao Patients With Juvenile Open-angle Glaucoma

Objective To screen the mutation loci of trabecularmeshwork-induced glucocorticoid response protein (MY0C/T1GR) gene in Qingdao patients with juvenile open-angle glaucoma(JOAG), their relatives and normal controls, and to investigate the association between MYOC genotype and phenotype of JOAG. Methods (1)Speciments of periphral blood were collected from 25 patients with JOAG ,their 10 relatives and 25 normal subjects. Polymerase chain reaction (PCR)was usd to analyze the sequence of MYOC gene consisting of all 3 exons and adjacent non-coding regions. (3)MYOC gene was screened for sequence alterations by single-strand conformation polymorphism (SSCP). (3) The abnormal strands by SSCP were evaluated by bi-directional sequencing. (4) The sequence alterations were analyzed by bioinformatics and phenotype.Results (1) MYOCgene mutation was found in 1 case and the same MYOCgene mutations in his relative. No MYOC gene mutation was found in 20 normal subjectes. (2) The mutation sites in 1374 t-c alteration discovered in the present study have not been reported previously. (3) Bioinformatics analysis indicated that the mutations in structural domain could lead to the changes in the amino acid sequence coded, structure and function of protein.Conclusions We found that the MYOC gene mutations is related to the occurrence of JOAG inQingdao. The relatives of JOAG patients may have a higher incidence of MYOC gene mutation as compared with the controls. Furthermore, after analyzed by bioinformatics, we found that the alteration of structure and biological activity of MYOC protein resulted from gene mutation may be one of the important changesthat leading to the occurrence of JOAG.