中文摘要：

目的研究中国山东地区先天性甲状腺功能减退症（congenital hypothyroidism,CH）伴甲状腺肿大患儿双氧化酶成熟因子2（DUOXA2）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55例CH伴甲状腺肿大患儿和100例正常对照。提取外周静脉血基因组DNA,采用PCR扩增与直接测序的方法,对DUOXA2基因全部外显子进行突变筛查。对发现的SNP位点的基因频率进行χ2检验。结果在1例CH患者中发现1个DUOXA2基因纯合性无义突变（c.C738G）。并在10例CH患儿和13个健康人中发现1个单核苷酸多态性（SNP）位点（rs2576092,IVS4＋6C〉T）。在正常对照中未发现突变。两组的SNP基因频率比较,差异无统计学意义。结论 DUOXA2基因突变率较低,可能不是山东地区CH伴甲状腺肿大患者的主要病因。

英文摘要：

Objective To investigate the dual oxidase maturation factor 2（DUOXA2）mutations in patients with congenital hypothyroidism（CH）and goiter from Shandong province,China,and to give solid theoretical basis for prenatal diagnosis and gene therapy of CH. Methods A total of 55 patients of CH with goiter and 100 healthy individuals were enrolled,and extracted Genomic DNA from peripheral blood leukocytes.All exons of DUOXA2 gene were amplified by PCR,the products were directly sequenced to find new mutations types of DUOXA2 gene,andχ^2 test was used. Results A homozygous nonsense mutation（c.C738G）of DUOXA2 gene was identified in one patient,and a SNP（rs2576092,IVS4＋6C〉T）in intron 4was found in 10 CH patients and 13 healthy controls.There was no significant difference between the SNP rate in CH patients and controls（P〉0.05）. Conclusion The mutation rate of DUOXA2 gene is very low,which suggests that DUOXA2 gene mutation may not be the main cause of CH with goiter patients from Shandong province.