ABSTRACT
Objective We screened for mutations in an autosomal dominant congenital cataract pedigree by gene sequence analysis to provide a basis for genetic diagnosis of congenital cataract.Methods A Chinese family with congenital nuclear cataract was recruited for mutational screening of candidate genes by direct sequencing.We analyzed the differences between the CRYGD gene mutant and wild-type in terms of protein conformation and structural domains using bioinformatics methods.Results We detected a novel heterozygous variant c.451_452insGACT in exon 3 of CR YGD.Bioinformatics analysis showed that the mutated CRYGD protein structural domain became shorter,the conformation became simpler,and protein inner repeatability was altered,affecting protein function.Conclusion We found that the Tyr1 51X gene mutation of CRYGD can lead to congenital hereditary cataract.To date,this is the only detected frameshift mutation caused by an insertion in CRYGD gene mutations.
ABSTRACT
Objective To investigate the correlation between the polymorphisms in GLIS3 and diabetic retinopathy in patients with type 2 diabetes in Northeast China.Methods Based on the case-control study,polymorphisms in GLIS3 were examined by PCR-RFLP in 120 cases of diabetic retinopathy in patients with type 2 diabetes (DR),120 cases of patients with type 2 diabetes without diabetic retinopathy (DNR),and 120 healthy individuals (NC).The odds ratio (OR) and 95％ confidence interval (C I) were calculated using unconditional logistic analysis.Results The resuhs demonstrated that GLIS3 rs7041847 AG,AG/GG genotype,or G allele was associated with an increased risk of DR and DNR (P ＜ 0.05).Moreover,GLIS3 rs7034200 CC,AC/CC genotype,or C allele was associated with an increased risk of DR and DNR (P ＜ 0.05).Conclusion In the patients in Northeast China,the polymorphisms in GLIS3 rs7041847 and rs7034200 were correlated with type 2 diabetes mellitus,while GLIS3 may not be associated with the susceptibility to diabetic retinopathy.