| 先天性原发性甲状腺功能减低症50例TSHR基因研究 |
| |
| 引用本文： | 黄晓东,顾学范,沈永年,张雅芬,叶军,陈瑞冠. 先天性原发性甲状腺功能减低症50例TSHR基因研究[J]. 临床儿科杂志, 2007, 25(7): 562-564 |
| |
| 作者姓名： | 黄晓东 顾学范 沈永年 张雅芬 叶军 陈瑞冠 |
| |
| 作者单位： | 上海交通大学医学院附属上海儿童医学中心,上海 200127;上海市儿科医学研究所,上海 200092 |
| |
| 基金项目： | 上海高校科学技术发展基金（No.99B15） |
| |
| 摘 要： | 目的探讨促甲状腺激素受体（TSHR）基因在先天性原发性甲状腺功能减低症（甲低）病因学中的地位。方法对50例先天性甲状腺功能减低症患者,从外周血白细胞中提取基因组DNA,采用PCR-SSCP方法对TSHR基因外显子10、6、1进行分析。结果在TSHR基因外显子10、6、1中未发现突变。结论已发现的TSHR基因编码区的结构改变,在中国人甲低的病因学中可能不具有重要地位。
|
| 关 键 词： | 先天性甲状腺功能减低症 原发性 TSHR基因 单链构象多态性分析 |
| 文章编号： | 1000-3606（2007）07-562-03 |
| 修稿时间： | 2007-03-20 |
Thyroid-stimulating hormone receptor gene analysis in 50 patients with primary congenital hypothyroidism |
| |
| HUANG Xiao-dong,GU Xue-fan,SHEN Yong-nian,ZHANG Ya-fen,YE Jun,CHEN Rui-guan. Thyroid-stimulating hormone receptor gene analysis in 50 patients with primary congenital hypothyroidism[J]. The Journal of Clinical Pediatrics, 2007, 25(7): 562-564 |
| |
| Authors: | HUANG Xiao-dong GU Xue-fan SHEN Yong-nian ZHANG Ya-fen YE Jun CHEN Rui-guan |
| |
| Abstract: | Objectives To determine the etiological role of thyroid-stimulating hormone receptor(TSHR)gene in primary congenital hypothyroidism.Methods Fifty Chinese patients(18 males,32 females)with primary congenital hypothyroidism were included.They were siblings from two families.Abnormal development of thyroid glands(23 agenesis,13 dysgenesis and 4 ectopia)was detected by ultrasound or isotope scanning in 40 patients.Genomic DNA was extracted from peripheral blood lymphocytes and PCR-SSCP was used to study exon 10,6 and 1 of TSHR gene in these patients.Results No mutation was detected in the study.Conclusions Structural changes in TSHR gene identified in other ethnic groups might not be the cause of primary congenital hypothyroidism in Chinese patients. |
| |
| Keywords: | congenital hypothyroidism primary thyroid-stimulating hormone receptor gene single-strand conformation polymorphism |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ |
