【摘要】 目的研究山东地区先天性甲状腺功能减退症(CH)伴甲状腺发育不全患儿转录因子2(FOXE1)基因突变类型及特点,为CH的诊断及治疗提供理论依据。方法选取60例CH伴甲状腺发育不全患儿,提取外周静脉血基因组DNA,采用PCR扩增与直接测序技术,对FOXE1基因全部编码序列进行突变筛查。结果在60例先天性甲状腺功能减退症伴甲状腺发育不全患者外显子测序中未发现基因突变位点,在6例患者中发现1个单核苷酸多态性(SNP)位点(rs755282859,c.483G>A),变异频率为10%。结论 FOXE1基因突变率较低,可能不是山东地区CH伴甲状腺发育不全的主要原因。更多还原

【Abstract】 Objective:To investigate the thyroid transcription factor 2(TTF2,also known as FOXE1)mutations in congenital hypothyroidism(CH)with agenesis patients from Shandong Province,China,in order to give solid theoretical basis for prenatal diagnosis and gene therapy of CH. Methods:We enrolled 60 patients of CH with agenesis individuals,and extracted genomic DNA from peripheral blood leukocytes. The exon of FOXE1 was amplified by PCR and the products were directly sequenced to find new mutations types of FOXE1. Results:One novel single nucleotide polymorphism(rs755282859,c.483G>A)was identified,but no mutation was observed. Conclusion:The mutation rate of FOXE1 is very low,suggesting that FOXE1 mutation may not be the main cause of CH with agenesis patients from Shandong Province.更多还原