[Study on XXXX / @entity29714 gene mutations in primary open-angle glaucoma].

@entity1 @entity725 @entity72981 @entity535 @entity32179 @entity40705 @entity29714
OBJECTIVE: To study the mutations in the trabecular meshwork induced-glucocorticoid response protein gene ( @entity29714 / @entity29714 ) in Chinese @entity725 @entity1 . METHODS: It was a case-control study. One hundred and eighteen Chinese @entity1 with @entity725 and 150 control subjects without @entity725 were screened for coding sequence of the @entity29714 gene by polymerase chain reaction, single-strand conformation polymorphism (SSCP) and DNA sequence. Restriction endonuclease analysis was used to detect the SSCP in 150 gender- and aged-matched controls. Statistical significance of the difference in frequencies of @entity29714 mutations between @entity725 @entity1 and the controls was determined by the chi-squared test. RESULTS: Three coding sequence variants that lead to @entity535 changes were identified in @entity29714 gene. One mutation of @entity29714 gene was novel, @entity40705 , which was present in one @entity1 with @entity725 and 3 control subjects. @entity32179 and @entity72981 have been reported previously. @entity40705 and @entity72981 were found in both the subjects with and without @entity725 , the difference of the frequency of these two mutations between @entity725 and the controls was   (2) = 0.07, P = 0.791 and   (2) = 0.56, P = 0.453, respectively. Coding sequence mutations of @entity29714 were found in 4.23% @entity725 @entity1 . Frequency of @entity32179 mutation in @entity725 @entity1 was significantly greater than that in the controls (  (2) = 4.37, P = 0.037). CONCLUSIONS: One novel variant locus in the @entity29714 / @entity29714 ( @entity40705 ) was found in the present study, but this mutation is not associated with @entity725 . @entity32179 is the most common mutation in @entity29714 locus in Chinese subjects with @entity725 . Approximately 4.23% sporadic @entity725 @entity1 have mutation in the exon 1 in @entity29714 / @entity29714 .
