中文摘要：

目的 探讨中国先天性甲状腺功能减退症（congenital hypothyroidism, CH）患者的双氧化酶2（dualoxidase2,DUOX2）基因突变情况及其遗传模式.方法 从91例CH患儿外周血白细胞中提取基因组DNA,采用靶向二代测序的方法对DUOX2全部外显子和外显子-内含子交界区进行基因突变检测,并且通过构建三联家系研究DUOX2基因的遗传模式.结果 在91例患儿中发现54例患儿携带DUOX2基因突变,突变率为59.34%.其中36例携带DUOX2双等位基因突变,通过对其中12个携带双等位基因突变的患者的三联家系分析,发现患者携带的双等位基因突变分别来自于父亲和母亲,且父母亲甲状腺功能正常.结论 DUOX2突变是中国人群CH的常见致病基因,且其遗传模式是常染色体隐性遗传.

英文摘要：

Objective To investigate the prevalence of DUOX2 mutations in Chinese patients with congenital hypothyroidism （CH） and to discuss the inheritance pattern of DUOX2 gene.Methods Blood samples were collected from 91 CH children and their genomic DNA was extracted from peripheral blood leukocytes.All exons and exon-intron boundaries of DUOX2 were analyzed by target next-generation sequencing and family trios was established to study the inheritance pattern of DUOX2 gene.Results Fifty-four out of 91 children with CH carried DUOX2 mutation, with a prevalence of 59.34%.Of the 54 CH children, 36 carried DUOX2 biallelic mutations.In all 12 family trios with probands carrying biallelic DUOX2 mutations, the parents carried heterozygous DUOX2 mutations while still showing normal thyroid function, suggesting that CH caused by DUOX2 mutations is inherited in an autosomal recessive manner.Conclusion DUOX2 gene is one of the most frequently mutated genes in Chinese CH patients and its inheritance pattern is an autosomal recessive one.