中文摘要：

目的了解山东地区先天性甲状腺功能减退（甲减）伴甲状腺大病儿碘化酪氨酸脱碘酶（DEHAL1）基因突变类型及特点,为基因诊断提供理论依据。方法收集60例先天性甲减伴甲状腺大病儿（观察组）及100例甲状腺功能正常健康体检者（对照组）的外周静脉血标本,提取其基因组DNA,PCR扩增全部外显子并对PCR产物进行一代测序。结合测序结果及生物信息学分析DEHAL1基因突变情况,并对发现的单核苷酸多态性（SNP）位点的基因频率进行分析。结果观察组及对照组均未发现基因突变,但在第5外显子发现2个SNP位点（分别为rs612421,c.793T〉C;rs4479949,c.794G〉A）,3′端发现2个SNP位点（分别为rs2076286,c.＊107C〉T;rs2076285,c.＊131T〉C）。两组SNP基因频率比较,差异无统计学意义（P〉0.05）。结论山东地区先天性甲减伴甲状腺大病儿DEHAL1基因的突变率低,可能不是其主要病因。

英文摘要：

Objective To investigate the type and features of DEHAL1 mutation in patients with congenital hypothyroidism （CH） and goiter of Shandong province and provide theoretical basis for gene diagnosis of this disease. Methods Peripheral venous blood samples were collected from 60 patients with CH and goiter （observation group） and 100 healthy individuals of normal thyroid function （control group）. The genomic DNA was extracted, and all the exons were amplified by PCR and PCR products were sequenced by direct sequencing （Sanger sequencing）. DEHAL 1 mutation was analyzed combining with the sequencing results and bioinformatics, and the gene frequency of SNP site found was analyzed. Results No DEHAL1 gene mutation was found in the observation group and control group, but, two SNP loci were found in the fifth exon-rs612421, e.793T〉C; rs4479949, c. 794G〉A. Two SNPs were found in 3rregionrs2076286, c. ＊ 107C〉T, rs2076285, e. ＊ 131T〉C. The difference in SNP gene frequency between the two groups was not significant （P〉0.05）. Conclusion The DEHAL1 gene mutation rate is low in sick children with congenital hypothyroidism and goiter of Shandong province, this finding points out that mutation of the gene may not be the primary cause of the disease in this area.