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。
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 28 th exon factor(the ratio is 10%)and in the 17 th 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.
作者
周逵
李素丽
叶彩虹
ZHOU Kui;LI Suli;YE Caihong(Department of Laboratory,Shenzhen Hospital,Peking University,Shenzhen 518000,Guangdong,China;Central Laboratory,Shenzhen Maternal and Child Health Hospital,Shenzhen 518000,Guangdong,China;Department of Laboratory,Shenzhen Kangning Hospital,Shenzhen 518000,Guangdong,China)
出处
《中南医学科学杂志》
CAS
2020年第2期151-154,共4页
Medical Science Journal of Central South China
