Chai Jian, Yang Xiao-Long, Guo Ming-Zhen, Liu Lu, Liu Shi-Guo, Yan Sheng-Li, Ge Yin-Lin
Department of Biochemistry and Molecular Biology, Qingdao University, Qingdao, Shandong 266021, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jan;17(1):40-4.
To study the features of DUOX2 mutations and genotype-phenotype relationship in children with congenital hypothyroidism (CH), in order to provide evidence for gene diagnosis and gene treatment of CH.
Blood samples were collected from 10 CH children with thyromegaly. Genomic DNA was extracted from peripheral blood leukocytes. All exons of DUOX2 gene were analyzed using PCR and direct sequencing.
G3632A mutation in the exon 28 of DUOX2 that may result in arginine to histidine substitution at codon 1211 was found in one patient. T2033C mutation in the exon 17 of DUOX2 that may result in histidine to arginine substitution at codon 678 was found in three patients. They were all heterozygous mutations.
Heterozygous mutations in DUOX2 may affect protein function and cause CH. The relationship between DUOX2 genotypes and clinical phenotypes is unclear and needs further studies.
研究先天性甲状腺功能减退症（CH）患儿DUOX2基因突变特征及基因型与表型的关系，为CH的基因诊断和基因治疗提供依据。
收集10例甲状腺肿大的CH患儿血样。从外周血白细胞中提取基因组DNA。采用聚合酶链反应（PCR）和直接测序法分析DUOX2基因的所有外显子。
1例患者在DUOX2基因第28外显子发现G3632A突变，可能导致第1211密码子精氨酸被组氨酸替代。3例患者在DUOX2基因第17外显子发现T2033C突变，可能导致第678密码子组氨酸被精氨酸替代。这些均为杂合突变。
DUOX2基因杂合突变可能影响蛋白质功能并导致CH。DUOX2基因型与临床表型之间的关系尚不清楚，需要进一步研究。
