| 周逵,李素丽,叶彩虹.先天性甲低患儿相关基因突变及胰岛素样生长因子结合蛋白表达的研究.[J].中南医学科学杂志.,2020,(2):151-154. |
| 先天性甲低患儿相关基因突变及胰岛素样生长因子结合蛋白表达的研究 |
| Gene mutations and expression of insulin-like growth factor binding protein in hildren cwith congenital hypothyroidism |
| 投稿时间：2019-09-27 修订日期：2019-12-20 |
| DOI：10.15972/j.cnki.43-1509/r.2020.02.010 |
| 中文关键词: 先天性 甲状腺功能衰退症 基因突变 蛋白 氨基酸 |
| 英文关键词:congenital hypothyroidism gene mutation protein amino acid |
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| 中文摘要: |
| 为了解先天性甲状腺功能衰退症患儿相关基因突变以及胰岛素样生长因子结合蛋白(IGFBP-3)表达水平,选取100例先天性甲状腺功能衰退症患儿为观察对象,并选取同期67例正常儿童作为对照。结果发现,与正常儿童比较,先天性甲状腺功能衰退症患儿IGFBP-3水平明显著降低,另有10例双氧化酶2(DUOX2)基因的第28外显子基因存在突变,另有30例第17外显子基因突变。表明先天性甲状腺功能衰退症患儿存在DUOX2基因突变和IGFBP-3水降低。 |
| 英文摘要: |
| To examine the relationship between gene mutations related with congenital hypothyroidism and level of insulin-like growth factor binding protein(IGFBP-3), 100 children with congenital hypothyroidism were selected as observed subjects and 67 normal children as the control group. Results showed, compared to control, the expression of IGFBP-3 was lower in the observed group, the mutation of DUOX2 gene was found in the 28th exon factor (the ratio is 10%) and in the 17th exon (the ratio is 30%) in the observed group. These results indicated there is a DUOX2 gene mutation and decreased expression of IGFBP-3 in the children with congenital thyroid dysfunction. |
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