【摘要】 目的研究山东地区先天性甲状腺功能减退伴甲状腺肿大患儿碘化酪氨酸脱碘酶(iodotyrosine deiodinase,DEHAL1)基因突变类型及特点,为基因诊断提供理论依据。方法对18例经新生儿筛查确诊为先天性甲减伴甲状腺肿大患者,采用PCR扩增与直接测序的方法,对DEHAL1基因全部外显子进行基因突变检测。结合测序验证及生物信息学分析,探讨山东地区先天性甲状腺功能减退伴甲状腺肿大患者常见的DEHAL1基因突变类型和特点。结果在18例先天性甲减伴甲状腺肿大患者中,均没有发现DEHAL1基因全部外显子基因突变。分别在5例患者中和4例患者中发现DEHAL1c.678 T>C(p.C265R)和DEHAL1 c.679 G>A(p.R265H)两个单核苷酸多态性位点。结论山东地区先天性甲减伴甲状腺肿大患者中,DEHAL1基因突变率低,可能不是该地区先天性甲减伴甲状腺肿大的主要病因。更多还原

【Abstract】 Objective: We tried to identify iodotyrosine deiodinase(DEHAL1) gene mutation of congenital hypothyroidism with goiter patients from Shandong Province,in order to provide full evidence for gene diagnosis of congenital hypothyroidism.Methods: We collected 18 patients of congenital hypothyroidism with goiter from Shandong Province in this study.All 6 exons of DEHAL1 gene were amplified through PCR and the products were sequenced directly.We tried to analyze the type and characteristic of DEHAL1 gene mutation of congenital hypothyroidism with goiter patients in this region.Results: Two single nucleotide polymorphism of DEHAL1 gene were identified,but no gene mutation was observed.We found DEHAL1 c.678 T>C(p.C265R) in 5 patients and DEHAL1 c.679 G>A(p.R265H) in 4 patients.Conclusion: The incidence of DEHAL1 gene mutation is very low in congenital hypothyroidism with goiter patients from Shandong Province.It suggests that DEHAL1 gene mutation may not serve as the main cause of congenital hypothyroidism with goiter in Shandong Province.更多还原