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Objective To investigate the features and characteristics of GLIS3 gene mutation in patients with congenital hypothyroidism(CH),and to establish the theoretical basis for gene diagnosis and prenatal diagnosis of CH.Methods Genomic DNA was extracted from peripheral blood leukocytes of 50 patients with CH who were collected from February 2007 to November 2016 in Shandong Province.The exon 2 to 11 of GLIS3 were amplified with 11 pairs of sequence specific primers designed by Primer 5.0.Polymerase chain reaction and the first generation of sequencing method(Sanger sequencing) were used to detect the mutation.Comparison of the sequencing results with the GLIS3 reference sequence (National Center for Biotechnology Information Reference Sequence:NC_000009.12) helped to screen gene mutations.Results The 50 CH patients included 22 boys and 28 girls,and the sex ratio was 1.0 ∶ 1.3.The mean age was (2.5 ± 0.5) years.Six cases (12％) had thyroid gland hypoplasia,23 cases (46％) had thyroid gland agenesis and 21 cases(42％) with ectopic thyroid gland.C2507A missense mutation was found in exon 10 of GLIS3 in a thyroid gland agenesis case,which might result in proline to glutamine substitution at codon 836.One mutant (rs780019691,c.C289T) was detected which was nonsense mutation (Arg→Stop) in another thyroid gland agenesis child.Conclusions The mutation rate of GLIS3 gene is very low in CH children of Shandong province.Further studies are needed to investigate the relationship between GLIS3 genotypes and clinical phenotypes.
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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.