[To screen, clone and sequence TIGR gene mutation in Chinese patients with primary open- angle glaucoma].
OBJECTIVE
To study trabecular meshwork induced glucocorticoid response protein (TIGR) gene mutation in Chinese patients with primary open-angle glaucoma (POAG).


METHODS
(1) From 70 patients with POAG and 20 normal controls, TIGR gene which consists of three exons (7 pairs of primer) was amplified by polymerase chain reaction (PCR). The mutation of PCR amplification products was evaluated by single-stranded conformation polymorphism (SSCP). (2) After the above PCR products were cloned into the PT-Adv vectors, the construction plasmids were evaluated by Ecor I endonuclease and direct sequence was performed.


RESULTS
(1) With SSCP screening, the single strand band abnormality was found in the middle fragments of the third exon (the sixth pair of primer) of TIGR gene in two patients with POAG, but the control group appeared normal. (2) The two samples using clone and sequence showed that one had a 'GAT'- to- 'AAT' transition at amino acid Asp 338 Asn mutation; the base sequence of another one had no change. These results suggested that mutation rate of TIGR gene in Chinese patients with POAG be only 1.4% (1/70), being lower than that of foreigners.


CONCLUSIONS
The pathogenesis of Chinese patients with POAG may be related with TIGR gene mutation, but the mutation rate is lower than that in foreigners, indicating that the mechanism of POAG in China and aboard is different and the pathogenesis of POAG has difference in regions and races.
Zhuo
Y
Y
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou 510060, China.
Ge
J
J
Guo
Y
Y
Lan
Y
Y
Li
L
L
D000293:Adolescent; D000328:Adult; D003001:Cloning, Molecular; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000209:etiology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin