【摘要】 目的研究天津市区先天性甲状腺功能减退症(简称甲低)患者钠碘转运体(NIS)基因突变情况。方法用TKM法提取18例先天性甲低、35例随机正常对照者外周血DNA,分别聚合酶链反应(PCR)扩增NIS基因第1～15外显子,单链构象多态性分析(SSCP)筛查NIS基因15个外显子突变,突变经直接测序证实。结果所有研究对象NIS基因15个外显子均可以PCR扩增,经SSCP分析无异常电泳条带,表明18例先天性甲低无NIS基因突变。结论所研究的天津市区先天性甲低患者无NIS基因突变。更多还原

【Abstract】 Objective To investigate the mutation of sodium iodide symporter (NIS) gene in the patients with congenital hypothyroidism (CH) in Tianjin area. Methods Total genomic DNA was extracted from peripheral blood of 18 patients with CH and 35 normal subjects randomly selected. All 15 exons of NIS gene were individually amplified. Mutation was detected by single-strand conformational polymorphism(SSCP) technique and confirmed with direct sequencing. Results Exons of NIS gene of all the subjects were successfully amplified by polymerase chain reaction. SSCP analysis displayed no abnormality. No mutation was found in these patients. Conclusion The CH in Tianjin urban area had no mutation of NIS gene.更多还原