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目的研究先天性甲状腺功能减退(CH)患者DUOX2基因突变情况及基因型与表现型的关系。方法对10例CH患者伴甲状腺肿大的DUOX2基因的全部外显子进行基因突变筛查。结果在1例CH患儿中发现DUOX2基因单个等位基因的杂合性突变,为第17外显子cDNA的2101位点发生了C>T的突变(c.C2101T),导致第701密码子精氨酸变为终止密码(p.R701X)。结论我们的结果证实了DUOX2基因单个等位基因突变可引起CH伴甲状腺肿大。
Objective To study the mutation of DUOX2 gene in patients with congenital hypothyroidism (CH) and the relationship between genotypes and phenotypes. Methods All exons of DUOX2 gene in 10 CH patients with goiter were screened for mutations. Results A heterozygous mutation in a single allele of DUOX2 gene was found in one case of CH children. A C> T mutation (c.C2101T) occurred at 2101 of the 17th exon cDNA, resulting in the mutation of the 701st codon Arginine becomes the stop codon (p.R701X). Conclusions Our results demonstrate that single allelic mutations in the DUOX2 gene can cause CH with thyroid enlargement.