Study on DUOXA2 gene mutation in patients with congenital hypothyroidism and goiter.

LIU Lu; LI Hui-chao; CHAI Jian; SHAO Hui-ying; YI Ming-ji; CHEN Pei-jie; LIU Shi-guo; YAN Sheng-li

doi:10.11852/zgetbjzz2015-23-01-03

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Chinese Journal of Child Health Care ›› 2015, Vol. 23 ›› Issue (1) : 7-10. DOI: 10.11852/zgetbjzz2015-23-01-03

Study on DUOXA2 gene mutation in patients with congenital hypothyroidism and goiter.

LIU Lu¹,LI Hui-chao²,CHAI Jian³,SHAO Hui-ying⁴,YI Ming-ji⁵,CHEN Pei-jie¹,LIU Shi-guo⁵,YAN Sheng-li¹

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Abstract

Objective To investigate the dual oxidase maturation factor 2 (DUOXA2) mutations in patients with congenital hypothyroidism (CH) and goiter from Shandong province,China,and to give solid theoretical basis for prenatal diagnosis and gene therapy of CH. Methods A total of 55 patients of CH with goiter and 100 healthy individuals were enrolled,and extracted Genomic DNA from peripheral blood leukocytes.All exons of DUOXA2 gene were amplified by PCR,the products were directly sequenced to find new mutations types of DUOXA2 gene,and χ² test was used. Results A homozygous nonsense mutation (c.C738G) of DUOXA2 gene was identified in one patient,and a SNP (rs2576092,IVS4+6 C>T) in intron 4 was found in 10 CH patients and 13 healthy controls.There was no significant difference between the SNP rate in CH patients and controls(P＞0.05). Conclusion The mutation rate of DUOXA2 gene is very low,which suggests that DUOXA2 gene mutation may not be the main cause of CH with goiter patients from Shandong province.

Key words

congenital hypothyroidism / goiter / DUOXA2 gene / gene mutation / single nucleotide polymorphism

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LIU Lu,LI Hui-chao,CHAI Jian,SHAO Hui-ying,YI Ming-ji,CHEN Pei-jie,LIU Shi-guo,YAN Sheng-li. Study on DUOXA2 gene mutation in patients with congenital hypothyroidism and goiter.[J]. Chinese Journal of Child Health Care. 2015, 23(1): 7-10 https://doi.org/10.11852/zgetbjzz2015-23-01-03

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